rs1298637

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0448 (13439/29944,GnomAD)
C==0474 (13825/29118,TOPMED)
C==0469 (2347/5008,1000G)
T=0259 (999/3854,ALSPAC)
T=0265 (984/3708,TWINSUK)

Position: chr1:53492930 (GRCh38.p7) (1p32.3)

Phenotype: ND

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 76 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.53492930C>T
GRCh37.p13 chr 1	NC_000001.10:g.53958603C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.050	T=0.950
1000Genomes	American	Sub	694	C=0.760	T=0.240
1000Genomes	East Asian	Sub	1008	C=0.487	T=0.513
1000Genomes	Europe	Sub	1006	C=0.722	T=0.278
1000Genomes	Global	Study-wide	5008	C=0.469	T=0.531
1000Genomes	South Asian	Sub	978	C=0.550	T=0.450
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.741	T=0.259
The Genome Aggregation Database	African	Sub	8720	C=0.136	T=0.864
The Genome Aggregation Database	American	Sub	836	C=0.800	T=0.200
The Genome Aggregation Database	East Asian	Sub	1612	C=0.518	T=0.482
The Genome Aggregation Database	Europe	Sub	18474	C=0.736	T=0.263
The Genome Aggregation Database	Global	Study-wide	29944	C=0.551	T=0.448
The Genome Aggregation Database	Other	Sub	302	C=0.660	T=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.474	T=0.525
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.735	T=0.265

PMID	Title	Author	Journal
23942779	A genome-wide association study of behavioral disinhibition.	McGue M	Behav Genet

P-Value

SNP ID	p-value	Traits	Study
rs1298637	5E-06	nicotine use	23942779

eQTL of rs1298637 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 rs1298637 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 )
chr1	53936226	53936439	E067	-22164
chr1	53936459	53936605	E067	-21998
chr1	53989614	53989664	E067	31011
chr1	53990446	53990998	E067	31843
chr1	53936226	53936439	E068	-22164
chr1	53936459	53936605	E068	-21998
chr1	53987633	53988067	E069	29030
chr1	53990446	53990998	E069	31843
chr1	53928498	53928758	E070	-29845
chr1	53935793	53936205	E070	-22398
chr1	53940547	53940640	E070	-17963
chr1	53940657	53940733	E070	-17870
chr1	53964546	53964722	E070	5943
chr1	53965990	53966135	E070	7387
chr1	53966473	53966670	E070	7870
chr1	53969015	53969068	E070	10412
chr1	53969107	53969861	E070	10504
chr1	53969914	53970003	E070	11311
chr1	53979580	53979851	E070	20977
chr1	53980111	53980184	E070	21508
chr1	53987366	53987442	E070	28763
chr1	53987633	53988067	E070	29030
chr1	53988083	53988176	E070	29480
chr1	53935793	53936205	E071	-22398
chr1	53936226	53936439	E071	-22164
chr1	53936459	53936605	E071	-21998
chr1	53951628	53951782	E071	-6821
chr1	53990446	53990998	E071	31843
chr1	53936226	53936439	E072	-22164
chr1	53936459	53936605	E072	-21998
chr1	53943351	53943448	E072	-15155
chr1	53943693	53943762	E072	-14841
chr1	53951162	53951586	E072	-7017
chr1	53988968	53989008	E072	30365
chr1	53989098	53989168	E072	30495
chr1	53989614	53989664	E072	31011
chr1	53990446	53990998	E072	31843
chr1	54007247	54007415	E072	48644
chr1	54007507	54008377	E072	48904
chr1	53935793	53936205	E073	-22398
chr1	53936226	53936439	E073	-22164
chr1	53936459	53936605	E073	-21998
chr1	53977413	53977468	E073	18810
chr1	53977485	53977620	E073	18882
chr1	53990446	53990998	E073	31843
chr1	53991825	53991896	E073	33222
chr1	53936459	53936605	E074	-21998
chr1	53989614	53989664	E074	31011
chr1	53990446	53990998	E074	31843
chr1	53920705	53920807	E081	-37796
chr1	53928498	53928758	E081	-29845
chr1	53929881	53930081	E081	-28522
chr1	53930835	53931032	E081	-27571
chr1	53951162	53951586	E081	-7017
chr1	53951628	53951782	E081	-6821
chr1	53966863	53967098	E081	8260
chr1	53967364	53967617	E081	8761
chr1	53969015	53969068	E081	10412
chr1	53969107	53969861	E081	10504
chr1	53979580	53979851	E081	20977
chr1	53987366	53987442	E081	28763
chr1	53987633	53988067	E081	29030
chr1	53988083	53988176	E081	29480
chr1	53992220	53992822	E081	33617
chr1	54001606	54001888	E081	43003
chr1	53920705	53920807	E082	-37796
chr1	53928498	53928758	E082	-29845
chr1	53929881	53930081	E082	-28522
chr1	53944138	53944497	E082	-14106
chr1	53945916	53945966	E082	-12637
chr1	53969015	53969068	E082	10412
chr1	53969107	53969861	E082	10504
chr1	53979038	53979177	E082	20435
chr1	53979580	53979851	E082	20977
chr1	54001450	54001542	E082	42847
chr1	54001606	54001888	E082	43003