rs13020121

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0298 (8924/29854,GnomAD)
A=0282 (8220/29116,TOPMED)
A=0358 (1793/5008,1000G)
A=0299 (1153/3854,ALSPAC)
A=0285 (1057/3708,TWINSUK)

Position: chr2:119147377 (GRCh38.p7) (2q14.2)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 23 Enhancers around

Promoter: 36 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.119147377G>A
GRCh37.p13 chr 2	NC_000002.11:g.119904953G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.809	A=0.191
1000Genomes	American	Sub	694	G=0.780	A=0.220
1000Genomes	East Asian	Sub	1008	G=0.346	A=0.654
1000Genomes	Europe	Sub	1006	G=0.682	A=0.318
1000Genomes	Global	Study-wide	5008	G=0.642	A=0.358
1000Genomes	South Asian	Sub	978	G=0.580	A=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.701	A=0.299
The Genome Aggregation Database	African	Sub	8678	G=0.769	A=0.231
The Genome Aggregation Database	American	Sub	836	G=0.750	A=0.250
The Genome Aggregation Database	East Asian	Sub	1614	G=0.376	A=0.624
The Genome Aggregation Database	Europe	Sub	18426	G=0.696	A=0.303
The Genome Aggregation Database	Global	Study-wide	29854	G=0.701	A=0.298
The Genome Aggregation Database	Other	Sub	300	G=0.650	A=0.350
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.717	A=0.282
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.715	A=0.285

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

SNP ID	p-value	Traits	Study
rs13020121	0.00000408	cocaine dependence(EA)	23958962
rs13020121	0.000537	cocaine dependence	23958962

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr2:119904953	STEAP3	ENSG00000115107.15	G>A	1.6297e-12	-76431	Cerebellum

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	119900443	119900910	E067	-4043
chr2	119900443	119900910	E069	-4043
chr2	119875909	119876048	E070	-28905
chr2	119876648	119876856	E070	-28097
chr2	119876894	119876962	E070	-27991
chr2	119877091	119877197	E070	-27756
chr2	119881052	119881172	E070	-23781
chr2	119892743	119892793	E070	-12160
chr2	119900443	119900910	E070	-4043
chr2	119938620	119938679	E070	33667
chr2	119902369	119902629	E071	-2324
chr2	119900443	119900910	E074	-4043
chr2	119900443	119900910	E081	-4043
chr2	119938620	119938679	E081	33667
chr2	119939320	119939383	E081	34367
chr2	119939461	119939758	E081	34508
chr2	119941373	119941439	E081	36420
chr2	119877091	119877197	E082	-27756
chr2	119897447	119897517	E082	-7436
chr2	119897682	119897732	E082	-7221
chr2	119938620	119938679	E082	33667
chr2	119939320	119939383	E082	34367
chr2	119939461	119939758	E082	34508

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	119915979	119916029	E067	11026
chr2	119916179	119916577	E067	11226
chr2	119915810	119915936	E068	10857
chr2	119915979	119916029	E068	11026
chr2	119916179	119916577	E068	11226
chr2	119914353	119914622	E069	9400
chr2	119914659	119914801	E069	9706
chr2	119914954	119915097	E069	10001
chr2	119915163	119915277	E069	10210
chr2	119915979	119916029	E069	11026
chr2	119916179	119916577	E069	11226
chr2	119914954	119915097	E070	10001
chr2	119915163	119915277	E070	10210
chr2	119915810	119915936	E070	10857
chr2	119914954	119915097	E071	10001
chr2	119915810	119915936	E071	10857
chr2	119915979	119916029	E071	11026
chr2	119916179	119916577	E071	11226
chr2	119914353	119914622	E072	9400
chr2	119914659	119914801	E072	9706
chr2	119914954	119915097	E072	10001
chr2	119915163	119915277	E072	10210
chr2	119915810	119915936	E072	10857
chr2	119915979	119916029	E072	11026
chr2	119916179	119916577	E072	11226
chr2	119914954	119915097	E073	10001
chr2	119915163	119915277	E073	10210
chr2	119915810	119915936	E073	10857
chr2	119915979	119916029	E073	11026
chr2	119916179	119916577	E073	11226
chr2	119914659	119914801	E082	9706
chr2	119914954	119915097	E082	10001
chr2	119915163	119915277	E082	10210
chr2	119915810	119915936	E082	10857
chr2	119915979	119916029	E082	11026
chr2	119916179	119916577	E082	11226