rs2545770

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0165 (4661/28216,GnomAD)
A=0203 (1019/5008,1000G)

Position: chr19:40818275 (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.40818275C>A
GRCh37.p13 chr 19	NC_000019.9:g.41324180C>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.638	A=0.362
1000Genomes	American	Sub	694	C=0.910	A=0.090
1000Genomes	East Asian	Sub	1008	C=0.685	A=0.315
1000Genomes	Europe	Sub	1006	C=0.904	A=0.096
1000Genomes	Global	Study-wide	5008	C=0.797	A=0.203
1000Genomes	South Asian	Sub	978	C=0.940	A=0.060
The Genome Aggregation Database	African	Sub	8158	C=0.699	A=0.301
The Genome Aggregation Database	American	Sub	780	C=0.940	A=0.060
The Genome Aggregation Database	East Asian	Sub	1418	C=0.666	A=0.334
The Genome Aggregation Database	Europe	Sub	17578	C=0.905	A=0.094
The Genome Aggregation Database	Global	Study-wide	28216	C=0.834	A=0.165
The Genome Aggregation Database	Other	Sub	282	C=0.900	A=0.100

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
rs2545770	4E-11	nicotine metabolite ratio in current smokers	27488534

eQTL of rs2545770 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 rs2545770 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	-13802
chr19	41310386	41310560	E067	-13620
chr19	41310588	41311205	E067	-12975
chr19	41311222	41311679	E067	-12501
chr19	41311756	41311846	E067	-12334
chr19	41311901	41311984	E067	-12196
chr19	41314057	41314164	E067	-10016
chr19	41314165	41314366	E067	-9814
chr19	41314383	41314438	E067	-9742
chr19	41314543	41314844	E067	-9336
chr19	41318614	41318775	E067	-5405
chr19	41318893	41318990	E067	-5190
chr19	41319058	41319424	E067	-4756
chr19	41319757	41319828	E067	-4352
chr19	41324139	41324179	E067	-1
chr19	41324351	41324854	E067	171
chr19	41324907	41325135	E067	727
chr19	41325420	41326011	E067	1240
chr19	41328596	41329263	E067	4416
chr19	41333021	41333471	E067	8841
chr19	41297251	41297337	E068	-26843
chr19	41297391	41298299	E068	-25881
chr19	41298323	41298444	E068	-25736
chr19	41298474	41298695	E068	-25485
chr19	41310386	41310560	E068	-13620
chr19	41310588	41311205	E068	-12975
chr19	41311222	41311679	E068	-12501
chr19	41311756	41311846	E068	-12334
chr19	41311901	41311984	E068	-12196
chr19	41313359	41314035	E068	-10145
chr19	41315417	41315497	E068	-8683
chr19	41315541	41315630	E068	-8550
chr19	41315675	41315793	E068	-8387
chr19	41318461	41318553	E068	-5627
chr19	41318614	41318775	E068	-5405
chr19	41318893	41318990	E068	-5190
chr19	41324907	41325135	E068	727
chr19	41325420	41326011	E068	1240
chr19	41328596	41329263	E068	4416
chr19	41333021	41333471	E068	8841
chr19	41307265	41307523	E069	-16657
chr19	41310588	41311205	E069	-12975
chr19	41311222	41311679	E069	-12501
chr19	41311756	41311846	E069	-12334
chr19	41311901	41311984	E069	-12196
chr19	41313359	41314035	E069	-10145
chr19	41315171	41315349	E069	-8831
chr19	41315417	41315497	E069	-8683
chr19	41315541	41315630	E069	-8550
chr19	41315675	41315793	E069	-8387
chr19	41319058	41319424	E069	-4756
chr19	41319502	41319594	E069	-4586
chr19	41319632	41319711	E069	-4469
chr19	41323661	41323817	E069	-363
chr19	41323901	41323956	E069	-224
chr19	41324139	41324179	E069	-1
chr19	41324351	41324854	E069	171
chr19	41324907	41325135	E069	727
chr19	41325420	41326011	E069	1240
chr19	41328368	41328433	E069	4188
chr19	41328596	41329263	E069	4416
chr19	41311222	41311679	E070	-12501
chr19	41311756	41311846	E070	-12334
chr19	41311901	41311984	E070	-12196
chr19	41313359	41314035	E070	-10145
chr19	41314057	41314164	E070	-10016
chr19	41339246	41339303	E070	15066
chr19	41309197	41310378	E071	-13802
chr19	41310386	41310560	E071	-13620
chr19	41310588	41311205	E071	-12975
chr19	41311222	41311679	E071	-12501
chr19	41311756	41311846	E071	-12334
chr19	41311901	41311984	E071	-12196
chr19	41313359	41314035	E071	-10145
chr19	41314057	41314164	E071	-10016
chr19	41314165	41314366	E071	-9814
chr19	41314383	41314438	E071	-9742
chr19	41314543	41314844	E071	-9336
chr19	41314849	41314965	E071	-9215
chr19	41315171	41315349	E071	-8831
chr19	41315417	41315497	E071	-8683
chr19	41315541	41315630	E071	-8550
chr19	41315675	41315793	E071	-8387
chr19	41318461	41318553	E071	-5627
chr19	41318614	41318775	E071	-5405
chr19	41318893	41318990	E071	-5190
chr19	41319058	41319424	E071	-4756
chr19	41319502	41319594	E071	-4586
chr19	41319632	41319711	E071	-4469
chr19	41319757	41319828	E071	-4352
chr19	41319892	41320080	E071	-4100
chr19	41324139	41324179	E071	-1
chr19	41324351	41324854	E071	171
chr19	41324907	41325135	E071	727
chr19	41325420	41326011	E071	1240
chr19	41328368	41328433	E071	4188
chr19	41328596	41329263	E071	4416
chr19	41329354	41329411	E071	5174
chr19	41285641	41285695	E072	-38485
chr19	41285796	41285841	E072	-38339
chr19	41285887	41286023	E072	-38157
chr19	41286106	41286207	E072	-37973
chr19	41297251	41297337	E072	-26843
chr19	41309197	41310378	E072	-13802
chr19	41310386	41310560	E072	-13620
chr19	41310588	41311205	E072	-12975
chr19	41311222	41311679	E072	-12501
chr19	41311756	41311846	E072	-12334
chr19	41311901	41311984	E072	-12196
chr19	41313359	41314035	E072	-10145
chr19	41314057	41314164	E072	-10016
chr19	41314165	41314366	E072	-9814
chr19	41314383	41314438	E072	-9742
chr19	41314543	41314844	E072	-9336
chr19	41315541	41315630	E072	-8550
chr19	41315675	41315793	E072	-8387
chr19	41318461	41318553	E072	-5627
chr19	41324139	41324179	E072	-1
chr19	41324907	41325135	E072	727
chr19	41328596	41329263	E072	4416
chr19	41333021	41333471	E072	8841
chr19	41339828	41339912	E072	15648
chr19	41297391	41298299	E073	-25881
chr19	41298323	41298444	E073	-25736
chr19	41310588	41311205	E073	-12975
chr19	41311222	41311679	E073	-12501
chr19	41311756	41311846	E073	-12334
chr19	41311901	41311984	E073	-12196
chr19	41313359	41314035	E073	-10145
chr19	41318461	41318553	E073	-5627
chr19	41318614	41318775	E073	-5405
chr19	41318893	41318990	E073	-5190
chr19	41319058	41319424	E073	-4756
chr19	41324351	41324854	E073	171
chr19	41324907	41325135	E073	727
chr19	41328009	41328074	E073	3829
chr19	41328217	41328302	E073	4037
chr19	41328368	41328433	E073	4188
chr19	41328596	41329263	E073	4416
chr19	41333021	41333471	E073	8841
chr19	41309197	41310378	E074	-13802
chr19	41310386	41310560	E074	-13620
chr19	41310588	41311205	E074	-12975
chr19	41311222	41311679	E074	-12501
chr19	41311756	41311846	E074	-12334
chr19	41311901	41311984	E074	-12196
chr19	41313359	41314035	E074	-10145
chr19	41314057	41314164	E074	-10016
chr19	41314165	41314366	E074	-9814
chr19	41314383	41314438	E074	-9742
chr19	41315541	41315630	E074	-8550
chr19	41315675	41315793	E074	-8387
chr19	41318461	41318553	E074	-5627
chr19	41318614	41318775	E074	-5405
chr19	41318893	41318990	E074	-5190
chr19	41319058	41319424	E074	-4756
chr19	41319502	41319594	E074	-4586
chr19	41319632	41319711	E074	-4469
chr19	41319757	41319828	E074	-4352
chr19	41319892	41320080	E074	-4100
chr19	41324139	41324179	E074	-1
chr19	41324351	41324854	E074	171
chr19	41325420	41326011	E074	1240
chr19	41328217	41328302	E074	4037
chr19	41328368	41328433	E074	4188
chr19	41328596	41329263	E074	4416
chr19	41329354	41329411	E074	5174
chr19	41333021	41333471	E074	8841
chr19	41339246	41339303	E074	15066
chr19	41339346	41339498	E074	15166
chr19	41339828	41339912	E074	15648
chr19	41354980	41355083	E074	30800
chr19	41306816	41307243	E081	-16937
chr19	41307265	41307523	E081	-16657
chr19	41309197	41310378	E081	-13802
chr19	41310386	41310560	E081	-13620
chr19	41310588	41311205	E081	-12975
chr19	41311222	41311679	E081	-12501
chr19	41311756	41311846	E081	-12334
chr19	41311901	41311984	E081	-12196
chr19	41312044	41313329	E081	-10851
chr19	41324351	41324854	E081	171
chr19	41311222	41311679	E082	-12501
chr19	41311756	41311846	E082	-12334
chr19	41311901	41311984	E082	-12196
chr19	41318461	41318553	E082	-5627
chr19	41318614	41318775	E082	-5405
chr19	41318893	41318990	E082	-5190
chr19	41323661	41323817	E082	-363
chr19	41323901	41323956	E082	-224
chr19	41324139	41324179	E082	-1
chr19	41324351	41324854	E082	171

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	41282597	41285339	E067	-38841
chr19	41303789	41306736	E067	-17444
chr19	41316570	41316987	E067	-7193
chr19	41317036	41317275	E067	-6905
chr19	41354337	41354458	E067	30157
chr19	41354484	41354854	E067	30304
chr19	41282597	41285339	E068	-38841
chr19	41303789	41306736	E068	-17444
chr19	41316570	41316987	E068	-7193
chr19	41317036	41317275	E068	-6905
chr19	41282597	41285339	E069	-38841
chr19	41303789	41306736	E069	-17444
chr19	41316570	41316987	E069	-7193
chr19	41317036	41317275	E069	-6905
chr19	41282597	41285339	E070	-38841
chr19	41303789	41306736	E070	-17444
chr19	41316570	41316987	E070	-7193
chr19	41317036	41317275	E070	-6905
chr19	41354484	41354854	E070	30304
chr19	41282597	41285339	E071	-38841
chr19	41303789	41306736	E071	-17444
chr19	41316570	41316987	E071	-7193
chr19	41317036	41317275	E071	-6905
chr19	41282597	41285339	E072	-38841
chr19	41303789	41306736	E072	-17444
chr19	41316570	41316987	E072	-7193
chr19	41317036	41317275	E072	-6905
chr19	41354337	41354458	E072	30157
chr19	41354484	41354854	E072	30304
chr19	41282597	41285339	E073	-38841
chr19	41303789	41306736	E073	-17444
chr19	41316570	41316987	E073	-7193
chr19	41317036	41317275	E073	-6905
chr19	41282597	41285339	E074	-38841
chr19	41303789	41306736	E074	-17444
chr19	41316570	41316987	E074	-7193
chr19	41317036	41317275	E074	-6905
chr19	41282597	41285339	E081	-38841
chr19	41282597	41285339	E082	-38841
chr19	41303789	41306736	E082	-17444
chr19	41316570	41316987	E082	-7193
chr19	41317036	41317275	E082	-6905