rs12071360

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0103 (3090/29962,GnomAD)
C=0141 (4126/29116,TOPMED)
C=0152 (761/5008,1000G)
C=0003 (10/3854,ALSPAC)
C=0001 (5/3708,TWINSUK)

Position: chr1:233608833 (GRCh38.p7) (1q42.2)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 80 Enhancers around

Promoter: 51 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.233608833T>C
GRCh37.p13 chr 1	NC_000001.10:g.233744579T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.655	C=0.345
1000Genomes	American	Sub	694	T=0.950	C=0.050
1000Genomes	East Asian	Sub	1008	T=0.832	C=0.168
1000Genomes	Europe	Sub	1006	T=0.998	C=0.002
1000Genomes	Global	Study-wide	5008	T=0.848	C=0.152
1000Genomes	South Asian	Sub	978	T=0.900	C=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.997	C=0.003
The Genome Aggregation Database	African	Sub	8698	T=0.686	C=0.314
The Genome Aggregation Database	American	Sub	838	T=0.970	C=0.030
The Genome Aggregation Database	East Asian	Sub	1620	T=0.807	C=0.193
The Genome Aggregation Database	Europe	Sub	18504	T=0.998	C=0.001
The Genome Aggregation Database	Global	Study-wide	29962	T=0.896	C=0.103
The Genome Aggregation Database	Other	Sub	302	T=0.990	C=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29116	T=0.858	C=0.141
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.999	C=0.001

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs12071360	8.33E-11	cocaine dependence,AA	23958962
rs12071360	0.0000356	cocaine dependence	23958962

eQTL of rs12071360 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 rs12071360 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	233742700	233742819	E067	-1760
chr1	233742823	233743012	E067	-1567
chr1	233743055	233743275	E067	-1304
chr1	233757739	233758002	E067	13160
chr1	233770361	233770411	E067	25782
chr1	233770448	233770555	E067	25869
chr1	233790412	233790683	E067	45833
chr1	233790726	233790819	E067	46147
chr1	233790891	233790965	E067	46312
chr1	233791040	233791398	E067	46461
chr1	233791786	233791901	E067	47207
chr1	233792076	233792193	E067	47497
chr1	233792249	233792325	E067	47670
chr1	233767804	233767999	E068	23225
chr1	233774508	233774659	E068	29929
chr1	233781444	233781500	E068	36865
chr1	233782939	233783079	E068	38360
chr1	233787807	233787861	E068	43228
chr1	233788080	233788236	E068	43501
chr1	233788280	233788454	E068	43701
chr1	233788655	233788705	E068	44076
chr1	233790412	233790683	E068	45833
chr1	233790726	233790819	E068	46147
chr1	233790891	233790965	E068	46312
chr1	233791040	233791398	E068	46461
chr1	233791786	233791901	E068	47207
chr1	233748583	233748646	E069	4004
chr1	233782939	233783079	E069	38360
chr1	233787807	233787861	E069	43228
chr1	233788080	233788236	E069	43501
chr1	233788280	233788454	E069	43701
chr1	233788655	233788705	E069	44076
chr1	233791040	233791398	E069	46461
chr1	233791786	233791901	E069	47207
chr1	233792076	233792193	E069	47497
chr1	233792249	233792325	E069	47670
chr1	233792600	233792684	E069	48021
chr1	233757739	233758002	E071	13160
chr1	233758018	233758120	E071	13439
chr1	233767804	233767999	E071	23225
chr1	233770361	233770411	E071	25782
chr1	233770448	233770555	E071	25869
chr1	233782939	233783079	E071	38360
chr1	233787807	233787861	E071	43228
chr1	233788080	233788236	E071	43501
chr1	233788280	233788454	E071	43701
chr1	233788655	233788705	E071	44076
chr1	233790412	233790683	E071	45833
chr1	233790726	233790819	E071	46147
chr1	233790891	233790965	E071	46312
chr1	233791040	233791398	E071	46461
chr1	233791786	233791901	E071	47207
chr1	233792076	233792193	E071	47497
chr1	233792249	233792325	E071	47670
chr1	233792600	233792684	E071	48021
chr1	233743055	233743275	E072	-1304
chr1	233743291	233743528	E072	-1051
chr1	233782939	233783079	E072	38360
chr1	233791040	233791398	E072	46461
chr1	233791786	233791901	E072	47207
chr1	233792076	233792193	E072	47497
chr1	233792249	233792325	E072	47670
chr1	233767804	233767999	E073	23225
chr1	233774508	233774659	E073	29929
chr1	233775430	233775634	E073	30851
chr1	233770361	233770411	E074	25782
chr1	233770448	233770555	E074	25869
chr1	233788655	233788705	E074	44076
chr1	233791040	233791398	E074	46461
chr1	233791786	233791901	E074	47207
chr1	233792600	233792684	E074	48021
chr1	233705538	233705611	E081	-38968
chr1	233705859	233705970	E081	-38609
chr1	233706019	233706302	E081	-38277
chr1	233706342	233706792	E081	-37787
chr1	233709600	233709914	E081	-34665
chr1	233705538	233705611	E082	-38968
chr1	233705859	233705970	E082	-38609
chr1	233706019	233706302	E082	-38277
chr1	233706342	233706792	E082	-37787

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	233723862	233724310	E067	-20269
chr1	233749071	233750277	E067	4492
chr1	233750388	233751354	E067	5809
chr1	233751367	233751580	E067	6788
chr1	233751762	233751838	E067	7183
chr1	233752586	233752636	E067	8007
chr1	233723862	233724310	E068	-20269
chr1	233724351	233724401	E068	-20178
chr1	233748886	233748941	E068	4307
chr1	233749071	233750277	E068	4492
chr1	233750388	233751354	E068	5809
chr1	233751367	233751580	E068	6788
chr1	233751762	233751838	E068	7183
chr1	233752586	233752636	E068	8007
chr1	233723862	233724310	E069	-20269
chr1	233724351	233724401	E069	-20178
chr1	233748886	233748941	E069	4307
chr1	233749071	233750277	E069	4492
chr1	233750388	233751354	E069	5809
chr1	233751367	233751580	E069	6788
chr1	233751762	233751838	E069	7183
chr1	233752586	233752636	E069	8007
chr1	233749071	233750277	E070	4492
chr1	233750388	233751354	E070	5809
chr1	233723862	233724310	E071	-20269
chr1	233724351	233724401	E071	-20178
chr1	233749071	233750277	E071	4492
chr1	233750388	233751354	E071	5809
chr1	233751367	233751580	E071	6788
chr1	233751762	233751838	E071	7183
chr1	233752586	233752636	E071	8007
chr1	233723862	233724310	E072	-20269
chr1	233748886	233748941	E072	4307
chr1	233749071	233750277	E072	4492
chr1	233750388	233751354	E072	5809
chr1	233751367	233751580	E072	6788
chr1	233751762	233751838	E072	7183
chr1	233752586	233752636	E072	8007
chr1	233749071	233750277	E073	4492
chr1	233750388	233751354	E073	5809
chr1	233751367	233751580	E073	6788
chr1	233751762	233751838	E073	7183
chr1	233752586	233752636	E073	8007
chr1	233723862	233724310	E074	-20269
chr1	233724351	233724401	E074	-20178
chr1	233749071	233750277	E074	4492
chr1	233750388	233751354	E074	5809
chr1	233751367	233751580	E074	6788
chr1	233749071	233750277	E082	4492
chr1	233750388	233751354	E082	5809
chr1	233751367	233751580	E082	6788