rs58592594

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0268 (8039/29944,GnomAD)
T=0246 (7183/29118,TOPMED)
T=0230 (1153/5008,1000G)
T=0313 (1205/3854,ALSPAC)
T=0323 (1199/3708,TWINSUK)

Position: chr1:203089348 (GRCh38.p7) (1q32.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 133 Enhancers around

Promoter: 17 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.203089348C>T
GRCh37.p13 chr 1	NC_000001.10:g.203058476C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.884	T=0.116
1000Genomes	American	Sub	694	C=0.730	T=0.270
1000Genomes	East Asian	Sub	1008	C=0.874	T=0.126
1000Genomes	Europe	Sub	1006	C=0.666	T=0.334
1000Genomes	Global	Study-wide	5008	C=0.770	T=0.230
1000Genomes	South Asian	Sub	978	C=0.640	T=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.687	T=0.313
The Genome Aggregation Database	African	Sub	8716	C=0.851	T=0.149
The Genome Aggregation Database	American	Sub	838	C=0.660	T=0.340
The Genome Aggregation Database	East Asian	Sub	1622	C=0.866	T=0.134
The Genome Aggregation Database	Europe	Sub	18466	C=0.666	T=0.333
The Genome Aggregation Database	Global	Study-wide	29944	C=0.731	T=0.268
The Genome Aggregation Database	Other	Sub	302	C=0.770	T=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.753	T=0.246
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.677	T=0.323

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs58592594	0.000364	alcohol consumption	23743675

eQTL of rs58592594 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 rs58592594 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	203037901	203038132	E067	-20344
chr1	203038197	203038850	E067	-19626
chr1	203071594	203071706	E067	13118
chr1	203087590	203087658	E067	29114
chr1	203094202	203094341	E067	35726
chr1	203103218	203103456	E067	44742
chr1	203103594	203103654	E067	45118
chr1	203104834	203105052	E067	46358
chr1	203105131	203105314	E067	46655
chr1	203105595	203105789	E067	47119
chr1	203107285	203107551	E067	48809
chr1	203107603	203107676	E067	49127
chr1	203015333	203015441	E068	-43035
chr1	203015544	203015697	E068	-42779
chr1	203025852	203026049	E068	-32427
chr1	203027670	203027951	E068	-30525
chr1	203037901	203038132	E068	-20344
chr1	203038197	203038850	E068	-19626
chr1	203087590	203087658	E068	29114
chr1	203090424	203090618	E068	31948
chr1	203104834	203105052	E068	46358
chr1	203105131	203105314	E068	46655
chr1	203105595	203105789	E068	47119
chr1	203105868	203105928	E068	47392
chr1	203107285	203107551	E068	48809
chr1	203107603	203107676	E068	49127
chr1	203015333	203015441	E069	-43035
chr1	203037901	203038132	E069	-20344
chr1	203038197	203038850	E069	-19626
chr1	203058833	203059160	E069	357
chr1	203087590	203087658	E069	29114
chr1	203094202	203094341	E069	35726
chr1	203103218	203103456	E069	44742
chr1	203103594	203103654	E069	45118
chr1	203104834	203105052	E069	46358
chr1	203105131	203105314	E069	46655
chr1	203105595	203105789	E069	47119
chr1	203105868	203105928	E069	47392
chr1	203107285	203107551	E069	48809
chr1	203107603	203107676	E069	49127
chr1	203020497	203020816	E070	-37660
chr1	203020933	203021395	E070	-37081
chr1	203021668	203021788	E070	-36688
chr1	203037052	203037102	E070	-21374
chr1	203037307	203037357	E070	-21119
chr1	203037901	203038132	E070	-20344
chr1	203038197	203038850	E070	-19626
chr1	203098357	203098441	E070	39881
chr1	203098478	203099372	E070	40002
chr1	203099521	203099659	E070	41045
chr1	203099769	203099975	E070	41293
chr1	203020933	203021395	E071	-37081
chr1	203037901	203038132	E071	-20344
chr1	203038197	203038850	E071	-19626
chr1	203058125	203058640	E071	0
chr1	203058833	203059160	E071	357
chr1	203103218	203103456	E071	44742
chr1	203103594	203103654	E071	45118
chr1	203104834	203105052	E071	46358
chr1	203105131	203105314	E071	46655
chr1	203105595	203105789	E071	47119
chr1	203105868	203105928	E071	47392
chr1	203107285	203107551	E071	48809
chr1	203107603	203107676	E071	49127
chr1	203015333	203015441	E072	-43035
chr1	203015544	203015697	E072	-42779
chr1	203020933	203021395	E072	-37081
chr1	203025852	203026049	E072	-32427
chr1	203026104	203026375	E072	-32101
chr1	203033228	203033282	E072	-25194
chr1	203033601	203033810	E072	-24666
chr1	203037901	203038132	E072	-20344
chr1	203038197	203038850	E072	-19626
chr1	203041474	203041586	E072	-16890
chr1	203058833	203059160	E072	357
chr1	203060091	203060299	E072	1615
chr1	203087590	203087658	E072	29114
chr1	203087778	203087924	E072	29302
chr1	203094202	203094341	E072	35726
chr1	203104834	203105052	E072	46358
chr1	203105131	203105314	E072	46655
chr1	203105595	203105789	E072	47119
chr1	203105868	203105928	E072	47392
chr1	203107285	203107551	E072	48809
chr1	203107603	203107676	E072	49127
chr1	203033228	203033282	E073	-25194
chr1	203038197	203038850	E073	-19626
chr1	203087590	203087658	E073	29114
chr1	203093183	203093315	E073	34707
chr1	203094202	203094341	E073	35726
chr1	203103218	203103456	E073	44742
chr1	203103594	203103654	E073	45118
chr1	203104834	203105052	E073	46358
chr1	203105131	203105314	E073	46655
chr1	203105595	203105789	E073	47119
chr1	203037901	203038132	E074	-20344
chr1	203038197	203038850	E074	-19626
chr1	203058125	203058640	E074	0
chr1	203058833	203059160	E074	357
chr1	203103218	203103456	E074	44742
chr1	203103594	203103654	E074	45118
chr1	203104834	203105052	E074	46358
chr1	203105131	203105314	E074	46655
chr1	203105595	203105789	E074	47119
chr1	203105868	203105928	E074	47392
chr1	203107285	203107551	E074	48809
chr1	203107603	203107676	E074	49127
chr1	203014075	203014201	E081	-44275
chr1	203014232	203014302	E081	-44174
chr1	203015333	203015441	E081	-43035
chr1	203015544	203015697	E081	-42779
chr1	203020933	203021395	E081	-37081
chr1	203070943	203071528	E081	12467
chr1	203071594	203071706	E081	13118
chr1	203072369	203072524	E081	13893
chr1	203072565	203072644	E081	14089
chr1	203098103	203098181	E081	39627
chr1	203098357	203098441	E081	39881
chr1	203098478	203099372	E081	40002
chr1	203099521	203099659	E081	41045
chr1	203099769	203099975	E081	41293
chr1	203100327	203100377	E081	41851
chr1	203104834	203105052	E081	46358
chr1	203105131	203105314	E081	46655
chr1	203105595	203105789	E081	47119
chr1	203070943	203071528	E082	12467
chr1	203071594	203071706	E082	13118
chr1	203100327	203100377	E082	41851
chr1	203103218	203103456	E082	44742
chr1	203104834	203105052	E082	46358
chr1	203105131	203105314	E082	46655
chr1	203105595	203105789	E082	47119
chr1	203105868	203105928	E082	47392

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	203096667	203097762	E067	38191
chr1	203096667	203097762	E068	38191
chr1	203044526	203044637	E069	-13839
chr1	203044675	203044790	E069	-13686
chr1	203044926	203045134	E069	-13342
chr1	203096667	203097762	E069	38191
chr1	203044526	203044637	E071	-13839
chr1	203044675	203044790	E071	-13686
chr1	203044926	203045134	E071	-13342
chr1	203096667	203097762	E071	38191
chr1	203096667	203097762	E072	38191
chr1	203096667	203097762	E073	38191
chr1	203096667	203097762	E074	38191
chr1	203044526	203044637	E082	-13839
chr1	203044675	203044790	E082	-13686
chr1	203044926	203045134	E082	-13342
chr1	203096667	203097762	E082	38191