rs1038984

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0268 (8032/29870,GnomAD)
A=0251 (7310/29118,TOPMED)
A=0238 (1191/5008,1000G)
A=0307 (1184/3854,ALSPAC)
A=0318 (1180/3708,TWINSUK)

Position: chr1:203089714 (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.203089714G>A
GRCh37.p13 chr 1	NC_000001.10:g.203058842G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.866	A=0.134
1000Genomes	American	Sub	694	G=0.730	A=0.270
1000Genomes	East Asian	Sub	1008	G=0.856	A=0.144
1000Genomes	Europe	Sub	1006	G=0.671	A=0.329
1000Genomes	Global	Study-wide	5008	G=0.762	A=0.238
1000Genomes	South Asian	Sub	978	G=0.640	A=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.693	A=0.307
The Genome Aggregation Database	African	Sub	8698	G=0.839	A=0.161
The Genome Aggregation Database	American	Sub	836	G=0.660	A=0.340
The Genome Aggregation Database	East Asian	Sub	1620	G=0.856	A=0.144
The Genome Aggregation Database	Europe	Sub	18414	G=0.671	A=0.328
The Genome Aggregation Database	Global	Study-wide	29870	G=0.731	A=0.268
The Genome Aggregation Database	Other	Sub	302	G=0.770	A=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.749	A=0.251
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.682	A=0.318

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
rs1038984	0.000332	alcohol consumption	23743675

eQTL of rs1038984 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 rs1038984 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	-20710
chr1	203038197	203038850	E067	-19992
chr1	203071594	203071706	E067	12752
chr1	203087590	203087658	E067	28748
chr1	203094202	203094341	E067	35360
chr1	203103218	203103456	E067	44376
chr1	203103594	203103654	E067	44752
chr1	203104834	203105052	E067	45992
chr1	203105131	203105314	E067	46289
chr1	203105595	203105789	E067	46753
chr1	203107285	203107551	E067	48443
chr1	203107603	203107676	E067	48761
chr1	203015333	203015441	E068	-43401
chr1	203015544	203015697	E068	-43145
chr1	203025852	203026049	E068	-32793
chr1	203027670	203027951	E068	-30891
chr1	203037901	203038132	E068	-20710
chr1	203038197	203038850	E068	-19992
chr1	203087590	203087658	E068	28748
chr1	203090424	203090618	E068	31582
chr1	203104834	203105052	E068	45992
chr1	203105131	203105314	E068	46289
chr1	203105595	203105789	E068	46753
chr1	203105868	203105928	E068	47026
chr1	203107285	203107551	E068	48443
chr1	203107603	203107676	E068	48761
chr1	203015333	203015441	E069	-43401
chr1	203037901	203038132	E069	-20710
chr1	203038197	203038850	E069	-19992
chr1	203058833	203059160	E069	0
chr1	203087590	203087658	E069	28748
chr1	203094202	203094341	E069	35360
chr1	203103218	203103456	E069	44376
chr1	203103594	203103654	E069	44752
chr1	203104834	203105052	E069	45992
chr1	203105131	203105314	E069	46289
chr1	203105595	203105789	E069	46753
chr1	203105868	203105928	E069	47026
chr1	203107285	203107551	E069	48443
chr1	203107603	203107676	E069	48761
chr1	203020497	203020816	E070	-38026
chr1	203020933	203021395	E070	-37447
chr1	203021668	203021788	E070	-37054
chr1	203037052	203037102	E070	-21740
chr1	203037307	203037357	E070	-21485
chr1	203037901	203038132	E070	-20710
chr1	203038197	203038850	E070	-19992
chr1	203098357	203098441	E070	39515
chr1	203098478	203099372	E070	39636
chr1	203099521	203099659	E070	40679
chr1	203099769	203099975	E070	40927
chr1	203020933	203021395	E071	-37447
chr1	203037901	203038132	E071	-20710
chr1	203038197	203038850	E071	-19992
chr1	203058125	203058640	E071	-202
chr1	203058833	203059160	E071	0
chr1	203103218	203103456	E071	44376
chr1	203103594	203103654	E071	44752
chr1	203104834	203105052	E071	45992
chr1	203105131	203105314	E071	46289
chr1	203105595	203105789	E071	46753
chr1	203105868	203105928	E071	47026
chr1	203107285	203107551	E071	48443
chr1	203107603	203107676	E071	48761
chr1	203015333	203015441	E072	-43401
chr1	203015544	203015697	E072	-43145
chr1	203020933	203021395	E072	-37447
chr1	203025852	203026049	E072	-32793
chr1	203026104	203026375	E072	-32467
chr1	203033228	203033282	E072	-25560
chr1	203033601	203033810	E072	-25032
chr1	203037901	203038132	E072	-20710
chr1	203038197	203038850	E072	-19992
chr1	203041474	203041586	E072	-17256
chr1	203058833	203059160	E072	0
chr1	203060091	203060299	E072	1249
chr1	203087590	203087658	E072	28748
chr1	203087778	203087924	E072	28936
chr1	203094202	203094341	E072	35360
chr1	203104834	203105052	E072	45992
chr1	203105131	203105314	E072	46289
chr1	203105595	203105789	E072	46753
chr1	203105868	203105928	E072	47026
chr1	203107285	203107551	E072	48443
chr1	203107603	203107676	E072	48761
chr1	203033228	203033282	E073	-25560
chr1	203038197	203038850	E073	-19992
chr1	203087590	203087658	E073	28748
chr1	203093183	203093315	E073	34341
chr1	203094202	203094341	E073	35360
chr1	203103218	203103456	E073	44376
chr1	203103594	203103654	E073	44752
chr1	203104834	203105052	E073	45992
chr1	203105131	203105314	E073	46289
chr1	203105595	203105789	E073	46753
chr1	203037901	203038132	E074	-20710
chr1	203038197	203038850	E074	-19992
chr1	203058125	203058640	E074	-202
chr1	203058833	203059160	E074	0
chr1	203103218	203103456	E074	44376
chr1	203103594	203103654	E074	44752
chr1	203104834	203105052	E074	45992
chr1	203105131	203105314	E074	46289
chr1	203105595	203105789	E074	46753
chr1	203105868	203105928	E074	47026
chr1	203107285	203107551	E074	48443
chr1	203107603	203107676	E074	48761
chr1	203014075	203014201	E081	-44641
chr1	203014232	203014302	E081	-44540
chr1	203015333	203015441	E081	-43401
chr1	203015544	203015697	E081	-43145
chr1	203020933	203021395	E081	-37447
chr1	203070943	203071528	E081	12101
chr1	203071594	203071706	E081	12752
chr1	203072369	203072524	E081	13527
chr1	203072565	203072644	E081	13723
chr1	203098103	203098181	E081	39261
chr1	203098357	203098441	E081	39515
chr1	203098478	203099372	E081	39636
chr1	203099521	203099659	E081	40679
chr1	203099769	203099975	E081	40927
chr1	203100327	203100377	E081	41485
chr1	203104834	203105052	E081	45992
chr1	203105131	203105314	E081	46289
chr1	203105595	203105789	E081	46753
chr1	203070943	203071528	E082	12101
chr1	203071594	203071706	E082	12752
chr1	203100327	203100377	E082	41485
chr1	203103218	203103456	E082	44376
chr1	203104834	203105052	E082	45992
chr1	203105131	203105314	E082	46289
chr1	203105595	203105789	E082	46753
chr1	203105868	203105928	E082	47026

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	203096667	203097762	E067	37825
chr1	203096667	203097762	E068	37825
chr1	203044526	203044637	E069	-14205
chr1	203044675	203044790	E069	-14052
chr1	203044926	203045134	E069	-13708
chr1	203096667	203097762	E069	37825
chr1	203044526	203044637	E071	-14205
chr1	203044675	203044790	E071	-14052
chr1	203044926	203045134	E071	-13708
chr1	203096667	203097762	E071	37825
chr1	203096667	203097762	E072	37825
chr1	203096667	203097762	E073	37825
chr1	203096667	203097762	E074	37825
chr1	203044526	203044637	E082	-14205
chr1	203044675	203044790	E082	-14052
chr1	203044926	203045134	E082	-13708
chr1	203096667	203097762	E082	37825