rs4885322

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

UCHL3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0222 (6647/29886,GnomAD)
A==0254 (7408/29118,TOPMED)
A==0290 (1453/5008,1000G)
A==0145 (560/3854,ALSPAC)
A==0148 (550/3708,TWINSUK)

Position: chr13:75597195 (GRCh38.p7) (13q22.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 17 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.75597195A>G
GRCh37.p13 chr 13	NC_000013.10:g.76171331A>G

Gene: UCHL3, ubiquitin C-terminal hydrolase L3(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UCHL3 transcript variant 1	NM_001270952.1:c.	N/A	Intron Variant
UCHL3 transcript variant 2	NM_006002.4:c.	N/A	Intron Variant
UCHL3 transcript variant X1	XM_011535212.1:c.	N/A	Intron Variant
UCHL3 transcript variant X2	XM_011535213.2:c.	N/A	Intron Variant
UCHL3 transcript variant X4	XM_011535214.2:c.	N/A	Intron Variant
UCHL3 transcript variant X3	XM_017020725.1:c.	N/A	Intron Variant
UCHL3 transcript variant X6	XM_017020727.1:c.	N/A	Intron Variant
UCHL3 transcript variant X5	XM_017020726.1:c.	N/A	3 Prime UTR Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.395	G=0.605
1000Genomes	American	Sub	694	A=0.380	G=0.620
1000Genomes	East Asian	Sub	1008	A=0.303	G=0.697
1000Genomes	Europe	Sub	1006	A=0.148	G=0.852
1000Genomes	Global	Study-wide	5008	A=0.290	G=0.710
1000Genomes	South Asian	Sub	978	A=0.220	G=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.145	G=0.855
The Genome Aggregation Database	African	Sub	8670	A=0.346	G=0.654
The Genome Aggregation Database	American	Sub	834	A=0.370	G=0.630
The Genome Aggregation Database	East Asian	Sub	1614	A=0.301	G=0.699
The Genome Aggregation Database	Europe	Sub	18466	A=0.151	G=0.849
The Genome Aggregation Database	Global	Study-wide	29886	A=0.222	G=0.777
The Genome Aggregation Database	Other	Sub	302	A=0.210	G=0.790
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.254	G=0.745
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.148	G=0.852

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs4885322	3.16E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs4885322 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	5.1663e-10	47712	Frontal_Cortex_BA9
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	2.3901e-6	47712	Cortex
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	2.8981e-11	47712	Caudate_basal_ganglia
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	9.6951e-12	47712	Hippocampus
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	8.9690e-14	47712	Putamen_basal_ganglia
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	1.7714e-11	47712	Anterior_cingulate_cortex
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	2.7803e-14	47712	Nucleus_accumbens_basal_ganglia
Chr13:76171331	UCHL3	ENSG00000118939.13	A>G	3.0852e-13	47712	Amygdala

meQTL of rs4885322 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 )
chr13	76122373	76122455	E067	-48876
chr13	76125221	76125273	E068	-46058
chr13	76125392	76125473	E068	-45858
chr13	76132442	76132551	E069	-38780
chr13	76132777	76132956	E069	-38375
chr13	76125221	76125273	E070	-46058
chr13	76125392	76125473	E070	-45858
chr13	76212367	76212417	E070	41036
chr13	76125221	76125273	E071	-46058
chr13	76125392	76125473	E071	-45858
chr13	76189450	76189627	E072	18119
chr13	76125221	76125273	E081	-46058
chr13	76125392	76125473	E081	-45858
chr13	76125606	76125667	E082	-45664
chr13	76126434	76126474	E082	-44857
chr13	76126522	76126572	E082	-44759
chr13	76126649	76126733	E082	-44598

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr13	76122714	76124837	E067	-46494
chr13	76209220	76212333	E067	37889
chr13	76122714	76124837	E068	-46494
chr13	76209220	76212333	E068	37889
chr13	76122714	76124837	E069	-46494
chr13	76209220	76212333	E069	37889
chr13	76122714	76124837	E070	-46494
chr13	76122714	76124837	E071	-46494
chr13	76209220	76212333	E071	37889
chr13	76122714	76124837	E072	-46494
chr13	76209220	76212333	E072	37889
chr13	76122714	76124837	E073	-46494
chr13	76122714	76124837	E074	-46494
chr13	76209220	76212333	E074	37889
chr13	76122714	76124837	E081	-46494
chr13	76122714	76124837	E082	-46494
chr13	76209220	76212333	E082	37889