rs8111234

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0480 (13990/29118,TOPMED)
C=0404 (2022/5008,1000G)
T==0482 (1856/3854,ALSPAC)
T==0472 (1751/3708,TWINSUK)

Position: chr19:5426438 (GRCh38.p7) (19p13.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 89 Enhancers around

Promoter: 6 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.5426438T>C
GRCh37.p13 chr 19	NC_000019.9:g.5426449T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.598	C=0.402
1000Genomes	American	Sub	694	T=0.490	C=0.510
1000Genomes	East Asian	Sub	1008	T=0.734	C=0.266
1000Genomes	Europe	Sub	1006	T=0.482	C=0.518
1000Genomes	Global	Study-wide	5008	T=0.596	C=0.404
1000Genomes	South Asian	Sub	978	T=0.650	C=0.350
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.482	C=0.518
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.519	C=0.480
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.472	C=0.528

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs8111234	0.000755	alcohol consumption (maxi-drinks)	24277619

eQTL of rs8111234 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 rs8111234 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 )
chr19	5396047	5396315	E067	-30134
chr19	5396382	5396631	E067	-29818
chr19	5466788	5467326	E069	40339
chr19	5467376	5467513	E069	40927
chr19	5467546	5467724	E069	41097
chr19	5394492	5394558	E070	-31891
chr19	5394711	5394788	E070	-31661
chr19	5395703	5395826	E070	-30623
chr19	5396047	5396315	E070	-30134
chr19	5396382	5396631	E070	-29818
chr19	5397815	5398276	E070	-28173
chr19	5398302	5398853	E070	-27596
chr19	5402496	5402575	E070	-23874
chr19	5416382	5416432	E070	-10017
chr19	5416601	5416651	E070	-9798
chr19	5416715	5416825	E070	-9624
chr19	5417700	5417770	E070	-8679
chr19	5420846	5420916	E070	-5533
chr19	5421081	5421287	E070	-5162
chr19	5421333	5421461	E070	-4988
chr19	5431033	5431186	E070	4584
chr19	5447845	5447988	E070	21396
chr19	5448004	5448441	E070	21555
chr19	5451444	5452073	E070	24995
chr19	5466574	5466737	E070	40125
chr19	5466788	5467326	E070	40339
chr19	5467376	5467513	E070	40927
chr19	5467546	5467724	E070	41097
chr19	5396047	5396315	E071	-30134
chr19	5466788	5467326	E072	40339
chr19	5467376	5467513	E072	40927
chr19	5467546	5467724	E072	41097
chr19	5466788	5467326	E074	40339
chr19	5394492	5394558	E081	-31891
chr19	5394711	5394788	E081	-31661
chr19	5395703	5395826	E081	-30623
chr19	5396047	5396315	E081	-30134
chr19	5396382	5396631	E081	-29818
chr19	5397815	5398276	E081	-28173
chr19	5398302	5398853	E081	-27596
chr19	5420846	5420916	E081	-5533
chr19	5421081	5421287	E081	-5162
chr19	5421333	5421461	E081	-4988
chr19	5425850	5426129	E081	-320
chr19	5435974	5436024	E081	9525
chr19	5444558	5444658	E081	18109
chr19	5444755	5444809	E081	18306
chr19	5445285	5445719	E081	18836
chr19	5445740	5445867	E081	19291
chr19	5447005	5447055	E081	20556
chr19	5447845	5447988	E081	21396
chr19	5448004	5448441	E081	21555
chr19	5448495	5448667	E081	22046
chr19	5450645	5451185	E081	24196
chr19	5451241	5451417	E081	24792
chr19	5451444	5452073	E081	24995
chr19	5452369	5452419	E081	25920
chr19	5452505	5452563	E081	26056
chr19	5452690	5452779	E081	26241
chr19	5466788	5467326	E081	40339
chr19	5467376	5467513	E081	40927
chr19	5467546	5467724	E081	41097
chr19	5472268	5472789	E081	45819
chr19	5472870	5472979	E081	46421
chr19	5473757	5474004	E081	47308
chr19	5395703	5395826	E082	-30623
chr19	5396047	5396315	E082	-30134
chr19	5396382	5396631	E082	-29818
chr19	5397815	5398276	E082	-28173
chr19	5420846	5420916	E082	-5533
chr19	5421333	5421461	E082	-4988
chr19	5425850	5426129	E082	-320
chr19	5426276	5426357	E082	-92
chr19	5426377	5426685	E082	0
chr19	5445285	5445719	E082	18836
chr19	5445740	5445867	E082	19291
chr19	5447845	5447988	E082	21396
chr19	5448004	5448441	E082	21555
chr19	5448495	5448667	E082	22046
chr19	5450645	5451185	E082	24196
chr19	5451241	5451417	E082	24792
chr19	5451444	5452073	E082	24995
chr19	5461825	5461875	E082	35376
chr19	5461988	5462042	E082	35539
chr19	5462100	5462209	E082	35651
chr19	5466574	5466737	E082	40125
chr19	5466788	5467326	E082	40339
chr19	5467376	5467513	E082	40927
chr19	5467546	5467724	E082	41097

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	5436053	5437319	E069	9604
chr19	5436053	5437319	E070	9604
chr19	5436053	5437319	E071	9604
chr19	5436053	5437319	E072	9604
chr19	5436053	5437319	E073	9604
chr19	5436053	5437319	E082	9604