rs58335266

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

HSPE1-MOB4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0328 (3077/9392,GnomAD)
G==0403 (2018/5008,1000G)

Position: chr2:197505616 (GRCh38.p7) (2q33.1)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 84 Enhancers around

Promoter: 59 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.197505616G>A
GRCh37.p13 chr 2	NC_000002.11:g.198370340G>A

Gene: HSPE1-MOB4, HSPE1-MOB4 readthrough(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HSPE1-MOB4 transcript	NM_001202485.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.397	A=0.603
1000Genomes	American	Sub	694	G=0.410	A=0.590
1000Genomes	East Asian	Sub	1008	G=0.531	A=0.469
1000Genomes	Europe	Sub	1006	G=0.304	A=0.696
1000Genomes	Global	Study-wide	5008	G=0.403	A=0.597
1000Genomes	South Asian	Sub	978	G=0.380	A=0.620
The Genome Aggregation Database	African	Sub	2936	G=0.643	A=0.357
The Genome Aggregation Database	American	Sub	130	G=0.620	A=0.380
The Genome Aggregation Database	East Asian	Sub	862	G=0.550	A=0.450
The Genome Aggregation Database	Europe	Sub	5380	G=0.708	A=0.292
The Genome Aggregation Database	Global	Study-wide	9392	G=0.672	A=0.328
The Genome Aggregation Database	Other	Sub	84	G=0.800	A=0.200

PMID	Title	Author	Journal
29071344	Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.	Zhou H	JAMA Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs58335266	6E-06	alcohol dependence	29071344

eQTL of rs58335266 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 rs58335266 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 )
chr2	198360488	198360561	E067	-9779
chr2	198360626	198360712	E067	-9628
chr2	198360877	198360917	E067	-9423
chr2	198361174	198361218	E067	-9122
chr2	198361568	198361612	E067	-8728
chr2	198361780	198361871	E067	-8469
chr2	198362103	198362393	E067	-7947
chr2	198367031	198367277	E067	-3063
chr2	198367486	198367530	E067	-2810
chr2	198403247	198403593	E067	32907
chr2	198360260	198360343	E068	-9997
chr2	198360488	198360561	E068	-9779
chr2	198360626	198360712	E068	-9628
chr2	198360877	198360917	E068	-9423
chr2	198361174	198361218	E068	-9122
chr2	198361568	198361612	E068	-8728
chr2	198361780	198361871	E068	-8469
chr2	198362103	198362393	E068	-7947
chr2	198367031	198367277	E068	-3063
chr2	198403247	198403593	E068	32907
chr2	198403652	198403704	E068	33312
chr2	198360626	198360712	E069	-9628
chr2	198360877	198360917	E069	-9423
chr2	198361174	198361218	E069	-9122
chr2	198361568	198361612	E069	-8728
chr2	198361780	198361871	E069	-8469
chr2	198362103	198362393	E069	-7947
chr2	198362464	198362514	E069	-7826
chr2	198362531	198362693	E069	-7647
chr2	198367031	198367277	E069	-3063
chr2	198398457	198398568	E069	28117
chr2	198398689	198398813	E069	28349
chr2	198403247	198403593	E069	32907
chr2	198360488	198360561	E070	-9779
chr2	198360626	198360712	E070	-9628
chr2	198360877	198360917	E070	-9423
chr2	198361174	198361218	E070	-9122
chr2	198361568	198361612	E070	-8728
chr2	198361780	198361871	E070	-8469
chr2	198362103	198362393	E070	-7947
chr2	198362464	198362514	E070	-7826
chr2	198324188	198324242	E071	-46098
chr2	198324375	198324425	E071	-45915
chr2	198360488	198360561	E071	-9779
chr2	198360626	198360712	E071	-9628
chr2	198360877	198360917	E071	-9423
chr2	198361174	198361218	E071	-9122
chr2	198361568	198361612	E071	-8728
chr2	198361780	198361871	E071	-8469
chr2	198362103	198362393	E071	-7947
chr2	198403247	198403593	E071	32907
chr2	198403652	198403704	E071	33312
chr2	198407026	198407090	E071	36686
chr2	198360488	198360561	E072	-9779
chr2	198360626	198360712	E072	-9628
chr2	198360877	198360917	E072	-9423
chr2	198361174	198361218	E072	-9122
chr2	198361568	198361612	E072	-8728
chr2	198361780	198361871	E072	-8469
chr2	198362103	198362393	E072	-7947
chr2	198362464	198362514	E072	-7826
chr2	198362531	198362693	E072	-7647
chr2	198403247	198403593	E072	32907
chr2	198320370	198320424	E073	-49916
chr2	198362464	198362514	E073	-7826
chr2	198362531	198362693	E073	-7647
chr2	198367031	198367277	E073	-3063
chr2	198360877	198360917	E074	-9423
chr2	198361174	198361218	E074	-9122
chr2	198361568	198361612	E074	-8728
chr2	198361780	198361871	E074	-8469
chr2	198362103	198362393	E074	-7947
chr2	198362464	198362514	E074	-7826
chr2	198362531	198362693	E074	-7647
chr2	198367031	198367277	E074	-3063
chr2	198398457	198398568	E074	28117
chr2	198398689	198398813	E074	28349
chr2	198403247	198403593	E074	32907
chr2	198403652	198403704	E074	33312
chr2	198361174	198361218	E082	-9122
chr2	198361568	198361612	E082	-8728
chr2	198361780	198361871	E082	-8469
chr2	198362103	198362393	E082	-7947
chr2	198362464	198362514	E082	-7826

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	198363378	198363426	E067	-6914
chr2	198363518	198365878	E067	-4462
chr2	198365950	198366008	E067	-4332
chr2	198366127	198366216	E067	-4124
chr2	198379473	198381572	E067	9133
chr2	198381598	198381775	E067	11258
chr2	198363378	198363426	E068	-6914
chr2	198363518	198365878	E068	-4462
chr2	198365950	198366008	E068	-4332
chr2	198366127	198366216	E068	-4124
chr2	198379473	198381572	E068	9133
chr2	198381598	198381775	E068	11258
chr2	198363378	198363426	E069	-6914
chr2	198363518	198365878	E069	-4462
chr2	198365950	198366008	E069	-4332
chr2	198366127	198366216	E069	-4124
chr2	198379473	198381572	E069	9133
chr2	198381598	198381775	E069	11258
chr2	198363378	198363426	E070	-6914
chr2	198363518	198365878	E070	-4462
chr2	198365950	198366008	E070	-4332
chr2	198366127	198366216	E070	-4124
chr2	198379473	198381572	E070	9133
chr2	198381598	198381775	E070	11258
chr2	198363378	198363426	E071	-6914
chr2	198363518	198365878	E071	-4462
chr2	198365950	198366008	E071	-4332
chr2	198366127	198366216	E071	-4124
chr2	198379473	198381572	E071	9133
chr2	198381598	198381775	E071	11258
chr2	198363378	198363426	E072	-6914
chr2	198363518	198365878	E072	-4462
chr2	198365950	198366008	E072	-4332
chr2	198366127	198366216	E072	-4124
chr2	198379473	198381572	E072	9133
chr2	198381598	198381775	E072	11258
chr2	198363378	198363426	E073	-6914
chr2	198363518	198365878	E073	-4462
chr2	198365950	198366008	E073	-4332
chr2	198366127	198366216	E073	-4124
chr2	198379473	198381572	E073	9133
chr2	198381598	198381775	E073	11258
chr2	198363378	198363426	E074	-6914
chr2	198363518	198365878	E074	-4462
chr2	198365950	198366008	E074	-4332
chr2	198366127	198366216	E074	-4124
chr2	198379473	198381572	E074	9133
chr2	198381598	198381775	E074	11258
chr2	198363378	198363426	E081	-6914
chr2	198365950	198366008	E081	-4332
chr2	198366127	198366216	E081	-4124
chr2	198379473	198381572	E081	9133
chr2	198381598	198381775	E081	11258
chr2	198363378	198363426	E082	-6914
chr2	198363518	198365878	E082	-4462
chr2	198365950	198366008	E082	-4332
chr2	198366127	198366216	E082	-4124
chr2	198379473	198381572	E082	9133
chr2	198381598	198381775	E082	11258