rs7507400

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0294 (8781/29848,GnomAD)
T=0312 (9096/29118,TOPMED)
T=0305 (1527/5008,1000G)
T=0315 (1214/3854,ALSPAC)
T=0318 (1179/3708,TWINSUK)

Position: chr19:40824274 (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.40824274G>T
GRCh37.p13 chr 19	NC_000019.9:g.41330179G>T
CYP2F2P pseudogene	NG_029339.2:g.2600C>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.697	T=0.303
1000Genomes	American	Sub	694	G=0.750	T=0.250
1000Genomes	East Asian	Sub	1008	G=0.760	T=0.240
1000Genomes	Europe	Sub	1006	G=0.683	T=0.317
1000Genomes	Global	Study-wide	5008	G=0.695	T=0.305
1000Genomes	South Asian	Sub	978	G=0.600	T=0.400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.685	T=0.315
The Genome Aggregation Database	African	Sub	8674	G=0.710	T=0.290
The Genome Aggregation Database	American	Sub	838	G=0.670	T=0.330
The Genome Aggregation Database	East Asian	Sub	1608	G=0.794	T=0.206
The Genome Aggregation Database	Europe	Sub	18430	G=0.697	T=0.302
The Genome Aggregation Database	Global	Study-wide	29848	G=0.705	T=0.294
The Genome Aggregation Database	Other	Sub	298	G=0.720	T=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.687	T=0.312
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.682	T=0.318

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
rs7507400	4E-08	nicotine metabolite ratio in current smokers	27488534

eQTL of rs7507400 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 rs7507400 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	-19801
chr19	41310386	41310560	E067	-19619
chr19	41310588	41311205	E067	-18974
chr19	41311222	41311679	E067	-18500
chr19	41311756	41311846	E067	-18333
chr19	41311901	41311984	E067	-18195
chr19	41314057	41314164	E067	-16015
chr19	41314165	41314366	E067	-15813
chr19	41314383	41314438	E067	-15741
chr19	41314543	41314844	E067	-15335
chr19	41318614	41318775	E067	-11404
chr19	41318893	41318990	E067	-11189
chr19	41319058	41319424	E067	-10755
chr19	41319757	41319828	E067	-10351
chr19	41324139	41324179	E067	-6000
chr19	41324351	41324854	E067	-5325
chr19	41324907	41325135	E067	-5044
chr19	41325420	41326011	E067	-4168
chr19	41328596	41329263	E067	-916
chr19	41333021	41333471	E067	2842
chr19	41297251	41297337	E068	-32842
chr19	41297391	41298299	E068	-31880
chr19	41298323	41298444	E068	-31735
chr19	41298474	41298695	E068	-31484
chr19	41310386	41310560	E068	-19619
chr19	41310588	41311205	E068	-18974
chr19	41311222	41311679	E068	-18500
chr19	41311756	41311846	E068	-18333
chr19	41311901	41311984	E068	-18195
chr19	41313359	41314035	E068	-16144
chr19	41315417	41315497	E068	-14682
chr19	41315541	41315630	E068	-14549
chr19	41315675	41315793	E068	-14386
chr19	41318461	41318553	E068	-11626
chr19	41318614	41318775	E068	-11404
chr19	41318893	41318990	E068	-11189
chr19	41324907	41325135	E068	-5044
chr19	41325420	41326011	E068	-4168
chr19	41328596	41329263	E068	-916
chr19	41333021	41333471	E068	2842
chr19	41307265	41307523	E069	-22656
chr19	41310588	41311205	E069	-18974
chr19	41311222	41311679	E069	-18500
chr19	41311756	41311846	E069	-18333
chr19	41311901	41311984	E069	-18195
chr19	41313359	41314035	E069	-16144
chr19	41315171	41315349	E069	-14830
chr19	41315417	41315497	E069	-14682
chr19	41315541	41315630	E069	-14549
chr19	41315675	41315793	E069	-14386
chr19	41319058	41319424	E069	-10755
chr19	41319502	41319594	E069	-10585
chr19	41319632	41319711	E069	-10468
chr19	41323661	41323817	E069	-6362
chr19	41323901	41323956	E069	-6223
chr19	41324139	41324179	E069	-6000
chr19	41324351	41324854	E069	-5325
chr19	41324907	41325135	E069	-5044
chr19	41325420	41326011	E069	-4168
chr19	41328368	41328433	E069	-1746
chr19	41328596	41329263	E069	-916
chr19	41311222	41311679	E070	-18500
chr19	41311756	41311846	E070	-18333
chr19	41311901	41311984	E070	-18195
chr19	41313359	41314035	E070	-16144
chr19	41314057	41314164	E070	-16015
chr19	41339246	41339303	E070	9067
chr19	41309197	41310378	E071	-19801
chr19	41310386	41310560	E071	-19619
chr19	41310588	41311205	E071	-18974
chr19	41311222	41311679	E071	-18500
chr19	41311756	41311846	E071	-18333
chr19	41311901	41311984	E071	-18195
chr19	41313359	41314035	E071	-16144
chr19	41314057	41314164	E071	-16015
chr19	41314165	41314366	E071	-15813
chr19	41314383	41314438	E071	-15741
chr19	41314543	41314844	E071	-15335
chr19	41314849	41314965	E071	-15214
chr19	41315171	41315349	E071	-14830
chr19	41315417	41315497	E071	-14682
chr19	41315541	41315630	E071	-14549
chr19	41315675	41315793	E071	-14386
chr19	41318461	41318553	E071	-11626
chr19	41318614	41318775	E071	-11404
chr19	41318893	41318990	E071	-11189
chr19	41319058	41319424	E071	-10755
chr19	41319502	41319594	E071	-10585
chr19	41319632	41319711	E071	-10468
chr19	41319757	41319828	E071	-10351
chr19	41319892	41320080	E071	-10099
chr19	41324139	41324179	E071	-6000
chr19	41324351	41324854	E071	-5325
chr19	41324907	41325135	E071	-5044
chr19	41325420	41326011	E071	-4168
chr19	41328368	41328433	E071	-1746
chr19	41328596	41329263	E071	-916
chr19	41329354	41329411	E071	-768
chr19	41285641	41285695	E072	-44484
chr19	41285796	41285841	E072	-44338
chr19	41285887	41286023	E072	-44156
chr19	41286106	41286207	E072	-43972
chr19	41297251	41297337	E072	-32842
chr19	41309197	41310378	E072	-19801
chr19	41310386	41310560	E072	-19619
chr19	41310588	41311205	E072	-18974
chr19	41311222	41311679	E072	-18500
chr19	41311756	41311846	E072	-18333
chr19	41311901	41311984	E072	-18195
chr19	41313359	41314035	E072	-16144
chr19	41314057	41314164	E072	-16015
chr19	41314165	41314366	E072	-15813
chr19	41314383	41314438	E072	-15741
chr19	41314543	41314844	E072	-15335
chr19	41315541	41315630	E072	-14549
chr19	41315675	41315793	E072	-14386
chr19	41318461	41318553	E072	-11626
chr19	41324139	41324179	E072	-6000
chr19	41324907	41325135	E072	-5044
chr19	41328596	41329263	E072	-916
chr19	41333021	41333471	E072	2842
chr19	41339828	41339912	E072	9649
chr19	41297391	41298299	E073	-31880
chr19	41298323	41298444	E073	-31735
chr19	41310588	41311205	E073	-18974
chr19	41311222	41311679	E073	-18500
chr19	41311756	41311846	E073	-18333
chr19	41311901	41311984	E073	-18195
chr19	41313359	41314035	E073	-16144
chr19	41318461	41318553	E073	-11626
chr19	41318614	41318775	E073	-11404
chr19	41318893	41318990	E073	-11189
chr19	41319058	41319424	E073	-10755
chr19	41324351	41324854	E073	-5325
chr19	41324907	41325135	E073	-5044
chr19	41328009	41328074	E073	-2105
chr19	41328217	41328302	E073	-1877
chr19	41328368	41328433	E073	-1746
chr19	41328596	41329263	E073	-916
chr19	41333021	41333471	E073	2842
chr19	41309197	41310378	E074	-19801
chr19	41310386	41310560	E074	-19619
chr19	41310588	41311205	E074	-18974
chr19	41311222	41311679	E074	-18500
chr19	41311756	41311846	E074	-18333
chr19	41311901	41311984	E074	-18195
chr19	41313359	41314035	E074	-16144
chr19	41314057	41314164	E074	-16015
chr19	41314165	41314366	E074	-15813
chr19	41314383	41314438	E074	-15741
chr19	41315541	41315630	E074	-14549
chr19	41315675	41315793	E074	-14386
chr19	41318461	41318553	E074	-11626
chr19	41318614	41318775	E074	-11404
chr19	41318893	41318990	E074	-11189
chr19	41319058	41319424	E074	-10755
chr19	41319502	41319594	E074	-10585
chr19	41319632	41319711	E074	-10468
chr19	41319757	41319828	E074	-10351
chr19	41319892	41320080	E074	-10099
chr19	41324139	41324179	E074	-6000
chr19	41324351	41324854	E074	-5325
chr19	41325420	41326011	E074	-4168
chr19	41328217	41328302	E074	-1877
chr19	41328368	41328433	E074	-1746
chr19	41328596	41329263	E074	-916
chr19	41329354	41329411	E074	-768
chr19	41333021	41333471	E074	2842
chr19	41339246	41339303	E074	9067
chr19	41339346	41339498	E074	9167
chr19	41339828	41339912	E074	9649
chr19	41354980	41355083	E074	24801
chr19	41306816	41307243	E081	-22936
chr19	41307265	41307523	E081	-22656
chr19	41309197	41310378	E081	-19801
chr19	41310386	41310560	E081	-19619
chr19	41310588	41311205	E081	-18974
chr19	41311222	41311679	E081	-18500
chr19	41311756	41311846	E081	-18333
chr19	41311901	41311984	E081	-18195
chr19	41312044	41313329	E081	-16850
chr19	41324351	41324854	E081	-5325
chr19	41311222	41311679	E082	-18500
chr19	41311756	41311846	E082	-18333
chr19	41311901	41311984	E082	-18195
chr19	41318461	41318553	E082	-11626
chr19	41318614	41318775	E082	-11404
chr19	41318893	41318990	E082	-11189
chr19	41323661	41323817	E082	-6362
chr19	41323901	41323956	E082	-6223
chr19	41324139	41324179	E082	-6000
chr19	41324351	41324854	E082	-5325

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	41282597	41285339	E067	-44840
chr19	41303789	41306736	E067	-23443
chr19	41316570	41316987	E067	-13192
chr19	41317036	41317275	E067	-12904
chr19	41354337	41354458	E067	24158
chr19	41354484	41354854	E067	24305
chr19	41282597	41285339	E068	-44840
chr19	41303789	41306736	E068	-23443
chr19	41316570	41316987	E068	-13192
chr19	41317036	41317275	E068	-12904
chr19	41282597	41285339	E069	-44840
chr19	41303789	41306736	E069	-23443
chr19	41316570	41316987	E069	-13192
chr19	41317036	41317275	E069	-12904
chr19	41282597	41285339	E070	-44840
chr19	41303789	41306736	E070	-23443
chr19	41316570	41316987	E070	-13192
chr19	41317036	41317275	E070	-12904
chr19	41354484	41354854	E070	24305
chr19	41282597	41285339	E071	-44840
chr19	41303789	41306736	E071	-23443
chr19	41316570	41316987	E071	-13192
chr19	41317036	41317275	E071	-12904
chr19	41282597	41285339	E072	-44840
chr19	41303789	41306736	E072	-23443
chr19	41316570	41316987	E072	-13192
chr19	41317036	41317275	E072	-12904
chr19	41354337	41354458	E072	24158
chr19	41354484	41354854	E072	24305
chr19	41282597	41285339	E073	-44840
chr19	41303789	41306736	E073	-23443
chr19	41316570	41316987	E073	-13192
chr19	41317036	41317275	E073	-12904
chr19	41282597	41285339	E074	-44840
chr19	41303789	41306736	E074	-23443
chr19	41316570	41316987	E074	-13192
chr19	41317036	41317275	E074	-12904
chr19	41282597	41285339	E081	-44840
chr19	41282597	41285339	E082	-44840
chr19	41303789	41306736	E082	-23443
chr19	41316570	41316987	E082	-13192
chr19	41317036	41317275	E082	-12904