rs17252296

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0196 (5862/29914,GnomAD)
C=0199 (5811/29118,TOPMED)
C=0142 (709/5008,1000G)
C=0253 (974/3854,ALSPAC)
C=0227 (841/3708,TWINSUK)

Position: chr14:51114203 (GRCh38.p7) (14q22.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 266 Enhancers around

Promoter: 68 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.51114203A>C
GRCh37.p13 chr 14	NC_000014.8:g.51580921A>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.891	C=0.109
1000Genomes	American	Sub	694	A=0.860	C=0.140
1000Genomes	East Asian	Sub	1008	A=0.948	C=0.052
1000Genomes	Europe	Sub	1006	A=0.734	C=0.266
1000Genomes	Global	Study-wide	5008	A=0.858	C=0.142
1000Genomes	South Asian	Sub	978	A=0.850	C=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.747	C=0.253
The Genome Aggregation Database	African	Sub	8704	A=0.863	C=0.137
The Genome Aggregation Database	American	Sub	834	A=0.880	C=0.120
The Genome Aggregation Database	East Asian	Sub	1620	A=0.956	C=0.044
The Genome Aggregation Database	Europe	Sub	18456	A=0.760	C=0.239
The Genome Aggregation Database	Global	Study-wide	29914	A=0.804	C=0.196
The Genome Aggregation Database	Other	Sub	300	A=0.760	C=0.240
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.800	C=0.199
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.773	C=0.227

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs17252296	8.59E-05	nicotine smoking	19268276

eQTL of rs17252296 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 rs17252296 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 )
chr14	51532194	51532248	E067	-48673
chr14	51533122	51533186	E067	-47735
chr14	51533413	51533453	E067	-47468
chr14	51533477	51533534	E067	-47387
chr14	51533535	51533585	E067	-47336
chr14	51534171	51534287	E067	-46634
chr14	51534309	51534395	E067	-46526
chr14	51542437	51542527	E067	-38394
chr14	51543003	51543137	E067	-37784
chr14	51543433	51543483	E067	-37438
chr14	51543993	51544043	E067	-36878
chr14	51544237	51544908	E067	-36013
chr14	51545970	51546061	E067	-34860
chr14	51546086	51546770	E067	-34151
chr14	51547575	51547700	E067	-33221
chr14	51547732	51547843	E067	-33078
chr14	51548221	51548271	E067	-32650
chr14	51548274	51548336	E067	-32585
chr14	51549605	51549655	E067	-31266
chr14	51552899	51553033	E067	-27888
chr14	51553387	51553437	E067	-27484
chr14	51553804	51553953	E067	-26968
chr14	51553963	51554099	E067	-26822
chr14	51554184	51554581	E067	-26340
chr14	51554595	51554668	E067	-26253
chr14	51556547	51556668	E067	-24253
chr14	51583529	51583661	E067	2608
chr14	51584474	51584538	E067	3553
chr14	51585852	51586113	E067	4931
chr14	51586114	51586340	E067	5193
chr14	51586517	51586617	E067	5596
chr14	51586668	51586718	E067	5747
chr14	51586759	51586815	E067	5838
chr14	51586857	51587100	E067	5936
chr14	51531909	51532123	E068	-48798
chr14	51532194	51532248	E068	-48673
chr14	51532544	51532594	E068	-48327
chr14	51533122	51533186	E068	-47735
chr14	51533413	51533453	E068	-47468
chr14	51533477	51533534	E068	-47387
chr14	51533535	51533585	E068	-47336
chr14	51534171	51534287	E068	-46634
chr14	51534309	51534395	E068	-46526
chr14	51534427	51534499	E068	-46422
chr14	51538565	51539095	E068	-41826
chr14	51540998	51541100	E068	-39821
chr14	51541287	51541740	E068	-39181
chr14	51541885	51541935	E068	-38986
chr14	51543003	51543137	E068	-37784
chr14	51543433	51543483	E068	-37438
chr14	51544237	51544908	E068	-36013
chr14	51545970	51546061	E068	-34860
chr14	51546086	51546770	E068	-34151
chr14	51547575	51547700	E068	-33221
chr14	51547732	51547843	E068	-33078
chr14	51548221	51548271	E068	-32650
chr14	51548274	51548336	E068	-32585
chr14	51552899	51553033	E068	-27888
chr14	51553387	51553437	E068	-27484
chr14	51553804	51553953	E068	-26968
chr14	51553963	51554099	E068	-26822
chr14	51554184	51554581	E068	-26340
chr14	51554595	51554668	E068	-26253
chr14	51584009	51584059	E068	3088
chr14	51584140	51584431	E068	3219
chr14	51584474	51584538	E068	3553
chr14	51586517	51586617	E068	5596
chr14	51586759	51586815	E068	5838
chr14	51586857	51587100	E068	5936
chr14	51605139	51605424	E068	24218
chr14	51605490	51605585	E068	24569
chr14	51532194	51532248	E069	-48673
chr14	51532544	51532594	E069	-48327
chr14	51533122	51533186	E069	-47735
chr14	51533413	51533453	E069	-47468
chr14	51533477	51533534	E069	-47387
chr14	51533535	51533585	E069	-47336
chr14	51534171	51534287	E069	-46634
chr14	51534309	51534395	E069	-46526
chr14	51534427	51534499	E069	-46422
chr14	51540998	51541100	E069	-39821
chr14	51541287	51541740	E069	-39181
chr14	51541885	51541935	E069	-38986
chr14	51542437	51542527	E069	-38394
chr14	51543003	51543137	E069	-37784
chr14	51543433	51543483	E069	-37438
chr14	51544237	51544908	E069	-36013
chr14	51545970	51546061	E069	-34860
chr14	51546086	51546770	E069	-34151
chr14	51547732	51547843	E069	-33078
chr14	51548221	51548271	E069	-32650
chr14	51548274	51548336	E069	-32585
chr14	51552899	51553033	E069	-27888
chr14	51553387	51553437	E069	-27484
chr14	51553804	51553953	E069	-26968
chr14	51553963	51554099	E069	-26822
chr14	51554184	51554581	E069	-26340
chr14	51554595	51554668	E069	-26253
chr14	51556547	51556668	E069	-24253
chr14	51563665	51563715	E069	-17206
chr14	51584140	51584431	E069	3219
chr14	51584474	51584538	E069	3553
chr14	51585852	51586113	E069	4931
chr14	51586114	51586340	E069	5193
chr14	51586517	51586617	E069	5596
chr14	51586668	51586718	E069	5747
chr14	51586759	51586815	E069	5838
chr14	51533413	51533453	E070	-47468
chr14	51533477	51533534	E070	-47387
chr14	51533535	51533585	E070	-47336
chr14	51534171	51534287	E070	-46634
chr14	51534309	51534395	E070	-46526
chr14	51564722	51564822	E070	-16099
chr14	51564967	51565018	E070	-15903
chr14	51533122	51533186	E071	-47735
chr14	51533413	51533453	E071	-47468
chr14	51533477	51533534	E071	-47387
chr14	51533535	51533585	E071	-47336
chr14	51534171	51534287	E071	-46634
chr14	51534309	51534395	E071	-46526
chr14	51540194	51540784	E071	-40137
chr14	51543433	51543483	E071	-37438
chr14	51543993	51544043	E071	-36878
chr14	51544237	51544908	E071	-36013
chr14	51545467	51545556	E071	-35365
chr14	51545611	51545661	E071	-35260
chr14	51545970	51546061	E071	-34860
chr14	51546086	51546770	E071	-34151
chr14	51547575	51547700	E071	-33221
chr14	51547732	51547843	E071	-33078
chr14	51552899	51553033	E071	-27888
chr14	51553387	51553437	E071	-27484
chr14	51553804	51553953	E071	-26968
chr14	51553963	51554099	E071	-26822
chr14	51554184	51554581	E071	-26340
chr14	51554595	51554668	E071	-26253
chr14	51556547	51556668	E071	-24253
chr14	51584009	51584059	E071	3088
chr14	51584140	51584431	E071	3219
chr14	51584474	51584538	E071	3553
chr14	51585852	51586113	E071	4931
chr14	51586114	51586340	E071	5193
chr14	51586517	51586617	E071	5596
chr14	51629779	51629886	E071	48858
chr14	51630084	51630136	E071	49163
chr14	51630211	51630261	E071	49290
chr14	51630266	51630344	E071	49345
chr14	51630357	51630682	E071	49436
chr14	51630729	51630789	E071	49808
chr14	51531909	51532123	E072	-48798
chr14	51532194	51532248	E072	-48673
chr14	51532544	51532594	E072	-48327
chr14	51533122	51533186	E072	-47735
chr14	51533413	51533453	E072	-47468
chr14	51533477	51533534	E072	-47387
chr14	51533535	51533585	E072	-47336
chr14	51534171	51534287	E072	-46634
chr14	51534309	51534395	E072	-46526
chr14	51534427	51534499	E072	-46422
chr14	51541287	51541740	E072	-39181
chr14	51541885	51541935	E072	-38986
chr14	51543003	51543137	E072	-37784
chr14	51543433	51543483	E072	-37438
chr14	51543993	51544043	E072	-36878
chr14	51544237	51544908	E072	-36013
chr14	51545467	51545556	E072	-35365
chr14	51545611	51545661	E072	-35260
chr14	51545970	51546061	E072	-34860
chr14	51546086	51546770	E072	-34151
chr14	51547575	51547700	E072	-33221
chr14	51547732	51547843	E072	-33078
chr14	51548221	51548271	E072	-32650
chr14	51548274	51548336	E072	-32585
chr14	51552899	51553033	E072	-27888
chr14	51553387	51553437	E072	-27484
chr14	51553804	51553953	E072	-26968
chr14	51553963	51554099	E072	-26822
chr14	51554184	51554581	E072	-26340
chr14	51554595	51554668	E072	-26253
chr14	51556547	51556668	E072	-24253
chr14	51584009	51584059	E072	3088
chr14	51584140	51584431	E072	3219
chr14	51584474	51584538	E072	3553
chr14	51585852	51586113	E072	4931
chr14	51586114	51586340	E072	5193
chr14	51586517	51586617	E072	5596
chr14	51586668	51586718	E072	5747
chr14	51586759	51586815	E072	5838
chr14	51586857	51587100	E072	5936
chr14	51531909	51532123	E073	-48798
chr14	51532194	51532248	E073	-48673
chr14	51533122	51533186	E073	-47735
chr14	51533413	51533453	E073	-47468
chr14	51533477	51533534	E073	-47387
chr14	51533535	51533585	E073	-47336
chr14	51534171	51534287	E073	-46634
chr14	51534309	51534395	E073	-46526
chr14	51534427	51534499	E073	-46422
chr14	51541287	51541740	E073	-39181
chr14	51541885	51541935	E073	-38986
chr14	51543433	51543483	E073	-37438
chr14	51543993	51544043	E073	-36878
chr14	51546086	51546770	E073	-34151
chr14	51547575	51547700	E073	-33221
chr14	51547732	51547843	E073	-33078
chr14	51548221	51548271	E073	-32650
chr14	51548274	51548336	E073	-32585
chr14	51552899	51553033	E073	-27888
chr14	51553387	51553437	E073	-27484
chr14	51553804	51553953	E073	-26968
chr14	51553963	51554099	E073	-26822
chr14	51554184	51554581	E073	-26340
chr14	51554595	51554668	E073	-26253
chr14	51585852	51586113	E073	4931
chr14	51586114	51586340	E073	5193
chr14	51531909	51532123	E074	-48798
chr14	51532194	51532248	E074	-48673
chr14	51532544	51532594	E074	-48327
chr14	51533122	51533186	E074	-47735
chr14	51533413	51533453	E074	-47468
chr14	51533477	51533534	E074	-47387
chr14	51533535	51533585	E074	-47336
chr14	51534171	51534287	E074	-46634
chr14	51534309	51534395	E074	-46526
chr14	51534427	51534499	E074	-46422
chr14	51541287	51541740	E074	-39181
chr14	51543993	51544043	E074	-36878
chr14	51544237	51544908	E074	-36013
chr14	51545970	51546061	E074	-34860
chr14	51546086	51546770	E074	-34151
chr14	51552899	51553033	E074	-27888
chr14	51553387	51553437	E074	-27484
chr14	51553804	51553953	E074	-26968
chr14	51553963	51554099	E074	-26822
chr14	51556547	51556668	E074	-24253
chr14	51583529	51583661	E074	2608
chr14	51583802	51583866	E074	2881
chr14	51584009	51584059	E074	3088
chr14	51584140	51584431	E074	3219
chr14	51584474	51584538	E074	3553
chr14	51585852	51586113	E074	4931
chr14	51586114	51586340	E074	5193
chr14	51586517	51586617	E074	5596
chr14	51586668	51586718	E074	5747
chr14	51586759	51586815	E074	5838
chr14	51630084	51630136	E074	49163
chr14	51630211	51630261	E074	49290
chr14	51630266	51630344	E074	49345
chr14	51630357	51630682	E074	49436
chr14	51630729	51630789	E074	49808
chr14	51538565	51539095	E081	-41826
chr14	51604998	51605103	E081	24077
chr14	51605139	51605424	E081	24218
chr14	51605490	51605585	E081	24569
chr14	51605639	51606451	E081	24718
chr14	51606904	51608047	E081	25983
chr14	51629779	51629886	E081	48858
chr14	51630084	51630136	E081	49163
chr14	51630211	51630261	E081	49290
chr14	51630266	51630344	E081	49345
chr14	51630357	51630682	E081	49436
chr14	51630729	51630789	E081	49808
chr14	51556547	51556668	E082	-24253
chr14	51605639	51606451	E082	24718
chr14	51606609	51606659	E082	25688
chr14	51606904	51608047	E082	25983

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	51558020	51558102	E067	-22819
chr14	51558319	51558423	E067	-22498
chr14	51558599	51558639	E067	-22282
chr14	51559195	51559248	E067	-21673
chr14	51559305	51559355	E067	-21566
chr14	51559391	51559431	E067	-21490
chr14	51559439	51559525	E067	-21396
chr14	51559632	51563471	E067	-17450
chr14	51558020	51558102	E068	-22819
chr14	51558319	51558423	E068	-22498
chr14	51559195	51559248	E068	-21673
chr14	51559305	51559355	E068	-21566
chr14	51559391	51559431	E068	-21490
chr14	51559439	51559525	E068	-21396
chr14	51559632	51563471	E068	-17450
chr14	51558020	51558102	E069	-22819
chr14	51558319	51558423	E069	-22498
chr14	51558599	51558639	E069	-22282
chr14	51559195	51559248	E069	-21673
chr14	51559305	51559355	E069	-21566
chr14	51559391	51559431	E069	-21490
chr14	51559439	51559525	E069	-21396
chr14	51559632	51563471	E069	-17450
chr14	51558020	51558102	E070	-22819
chr14	51558319	51558423	E070	-22498
chr14	51558599	51558639	E070	-22282
chr14	51559195	51559248	E070	-21673
chr14	51559305	51559355	E070	-21566
chr14	51559391	51559431	E070	-21490
chr14	51559439	51559525	E070	-21396
chr14	51559632	51563471	E070	-17450
chr14	51558020	51558102	E071	-22819
chr14	51558319	51558423	E071	-22498
chr14	51558599	51558639	E071	-22282
chr14	51559195	51559248	E071	-21673
chr14	51559305	51559355	E071	-21566
chr14	51559391	51559431	E071	-21490
chr14	51559439	51559525	E071	-21396
chr14	51559632	51563471	E071	-17450
chr14	51558319	51558423	E072	-22498
chr14	51558599	51558639	E072	-22282
chr14	51559195	51559248	E072	-21673
chr14	51559305	51559355	E072	-21566
chr14	51559391	51559431	E072	-21490
chr14	51559439	51559525	E072	-21396
chr14	51559632	51563471	E072	-17450
chr14	51558020	51558102	E073	-22819
chr14	51558319	51558423	E073	-22498
chr14	51558599	51558639	E073	-22282
chr14	51559195	51559248	E073	-21673
chr14	51559305	51559355	E073	-21566
chr14	51559391	51559431	E073	-21490
chr14	51559439	51559525	E073	-21396
chr14	51559632	51563471	E073	-17450
chr14	51559305	51559355	E074	-21566
chr14	51559391	51559431	E074	-21490
chr14	51559439	51559525	E074	-21396
chr14	51559632	51563471	E074	-17450
chr14	51559391	51559431	E081	-21490
chr14	51559439	51559525	E081	-21396
chr14	51559632	51563471	E081	-17450
chr14	51558319	51558423	E082	-22498
chr14	51558599	51558639	E082	-22282
chr14	51559195	51559248	E082	-21673
chr14	51559305	51559355	E082	-21566
chr14	51559391	51559431	E082	-21490
chr14	51559439	51559525	E082	-21396
chr14	51559632	51563471	E082	-17450