rs7650925

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

SRPRB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0475 (13772/28950,GnomAD)
G==0346 (1731/5008,1000G)

Position: chr3:133808325 (GRCh38.p7) (3q22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 108 Enhancers around

Promoter: 19 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.133808325G>T
GRCh37.p13 chr 3	NC_000003.11:g.133527169G>T

Gene: SRPRB, SRP receptor beta subunit(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SRPRB transcript	NM_021203.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.219	T=0.781
1000Genomes	American	Sub	694	G=0.460	T=0.540
1000Genomes	East Asian	Sub	1008	G=0.281	T=0.719
1000Genomes	Europe	Sub	1006	G=0.477	T=0.523
1000Genomes	Global	Study-wide	5008	G=0.346	T=0.654
1000Genomes	South Asian	Sub	978	G=0.370	T=0.630
The Genome Aggregation Database	African	Sub	8542	G=0.266	T=0.734
The Genome Aggregation Database	American	Sub	796	G=0.700	T=0.300
The Genome Aggregation Database	East Asian	Sub	1604	G=0.720	T=0.280
The Genome Aggregation Database	Europe	Sub	17716	G=0.623	T=0.376
The Genome Aggregation Database	Global	Study-wide	28950	G=0.524	T=0.475
The Genome Aggregation Database	Other	Sub	292	G=0.540	T=0.460

PMID	Title	Author	Journal
21665994	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Kutalik Z	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs7650925	2.74E-11	alcohol consumption	21665994

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr3	133482923	133483028	E067	-44141
chr3	133483054	133483594	E067	-43575
chr3	133483998	133484070	E067	-43099
chr3	133562885	133562960	E067	35716
chr3	133573215	133573347	E067	46046
chr3	133573885	133574171	E067	46716
chr3	133574725	133574824	E067	47556
chr3	133575303	133575377	E067	48134
chr3	133482562	133482616	E068	-44553
chr3	133482923	133483028	E068	-44141
chr3	133483054	133483594	E068	-43575
chr3	133572273	133572376	E068	45104
chr3	133572430	133572579	E068	45261
chr3	133572588	133572638	E068	45419
chr3	133573215	133573347	E068	46046
chr3	133573885	133574171	E068	46716
chr3	133574725	133574824	E068	47556
chr3	133575303	133575377	E068	48134
chr3	133482562	133482616	E069	-44553
chr3	133482923	133483028	E069	-44141
chr3	133483054	133483594	E069	-43575
chr3	133483998	133484070	E069	-43099
chr3	133484337	133484387	E069	-42782
chr3	133540603	133541021	E069	13434
chr3	133541191	133541245	E069	14022
chr3	133572273	133572376	E069	45104
chr3	133572430	133572579	E069	45261
chr3	133572588	133572638	E069	45419
chr3	133573215	133573347	E069	46046
chr3	133573885	133574171	E069	46716
chr3	133574725	133574824	E069	47556
chr3	133575303	133575377	E069	48134
chr3	133482923	133483028	E070	-44141
chr3	133483054	133483594	E070	-43575
chr3	133547093	133547193	E070	19924
chr3	133547516	133547745	E070	20347
chr3	133547924	133548172	E070	20755
chr3	133572273	133572376	E070	45104
chr3	133572430	133572579	E070	45261
chr3	133572588	133572638	E070	45419
chr3	133573215	133573347	E070	46046
chr3	133573885	133574171	E070	46716
chr3	133574725	133574824	E070	47556
chr3	133575303	133575377	E070	48134
chr3	133482562	133482616	E071	-44553
chr3	133482923	133483028	E071	-44141
chr3	133483054	133483594	E071	-43575
chr3	133483998	133484070	E071	-43099
chr3	133484337	133484387	E071	-42782
chr3	133540337	133540417	E071	13168
chr3	133572273	133572376	E071	45104
chr3	133572430	133572579	E071	45261
chr3	133572588	133572638	E071	45419
chr3	133573215	133573347	E071	46046
chr3	133573885	133574171	E071	46716
chr3	133574725	133574824	E071	47556
chr3	133482923	133483028	E072	-44141
chr3	133483054	133483594	E072	-43575
chr3	133483998	133484070	E072	-43099
chr3	133484337	133484387	E072	-42782
chr3	133573215	133573347	E072	46046
chr3	133573885	133574171	E072	46716
chr3	133574725	133574824	E072	47556
chr3	133482923	133483028	E073	-44141
chr3	133483054	133483594	E073	-43575
chr3	133540006	133540074	E073	12837
chr3	133540337	133540417	E073	13168
chr3	133540603	133541021	E073	13434
chr3	133541035	133541081	E073	13866
chr3	133541191	133541245	E073	14022
chr3	133572273	133572376	E073	45104
chr3	133573215	133573347	E073	46046
chr3	133573885	133574171	E073	46716
chr3	133574725	133574824	E073	47556
chr3	133575303	133575377	E073	48134
chr3	133482562	133482616	E074	-44553
chr3	133482923	133483028	E074	-44141
chr3	133483054	133483594	E074	-43575
chr3	133483998	133484070	E074	-43099
chr3	133484337	133484387	E074	-42782
chr3	133540006	133540074	E074	12837
chr3	133540337	133540417	E074	13168
chr3	133540603	133541021	E074	13434
chr3	133541035	133541081	E074	13866
chr3	133541191	133541245	E074	14022
chr3	133541431	133541497	E074	14262
chr3	133541623	133541762	E074	14454
chr3	133541910	133541964	E074	14741
chr3	133572430	133572579	E074	45261
chr3	133572588	133572638	E074	45419
chr3	133573215	133573347	E074	46046
chr3	133573885	133574171	E074	46716
chr3	133574725	133574824	E074	47556
chr3	133526132	133526214	E081	-955
chr3	133572273	133572376	E081	45104
chr3	133573215	133573347	E081	46046
chr3	133573885	133574171	E081	46716
chr3	133574725	133574824	E081	47556
chr3	133547516	133547745	E082	20347
chr3	133547924	133548172	E082	20755
chr3	133548284	133548391	E082	21115
chr3	133572273	133572376	E082	45104
chr3	133572430	133572579	E082	45261
chr3	133572588	133572638	E082	45419
chr3	133573215	133573347	E082	46046
chr3	133573885	133574171	E082	46716
chr3	133574725	133574824	E082	47556
chr3	133575303	133575377	E082	48134

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	133524082	133525550	E067	-1619
chr3	133525588	133525634	E067	-1535
chr3	133524082	133525550	E068	-1619
chr3	133525588	133525634	E068	-1535
chr3	133524082	133525550	E069	-1619
chr3	133524082	133525550	E070	-1619
chr3	133525588	133525634	E070	-1535
chr3	133524082	133525550	E071	-1619
chr3	133525588	133525634	E071	-1535
chr3	133524082	133525550	E072	-1619
chr3	133525588	133525634	E072	-1535
chr3	133524082	133525550	E073	-1619
chr3	133525588	133525634	E073	-1535
chr3	133524082	133525550	E074	-1619
chr3	133525588	133525634	E074	-1535
chr3	133524082	133525550	E081	-1619
chr3	133525588	133525634	E081	-1535
chr3	133524082	133525550	E082	-1619
chr3	133525588	133525634	E082	-1535

rs7650925

Genomic Coordinates

Gene: SRPRB, SRP receptor beta subunit(plus strand)

Population Frequency

P-Value

eQTL of rs7650925 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7650925 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)