rs2099269

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0332 (9937/29876,GnomAD)
T=0317 (9244/29118,TOPMED)
T=0310 (1551/5008,1000G)
T=0400 (1540/3854,ALSPAC)
T=0426 (1581/3708,TWINSUK)

Position: chr12:127775035 (GRCh38.p7) (12q24.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 67 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.127775035G>T
GRCh37.p13 chr 12	NC_000012.11:g.128259580G>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.864	T=0.136
1000Genomes	American	Sub	694	G=0.690	T=0.310
1000Genomes	East Asian	Sub	1008	G=0.675	T=0.325
1000Genomes	Europe	Sub	1006	G=0.629	T=0.371
1000Genomes	Global	Study-wide	5008	G=0.690	T=0.310
1000Genomes	South Asian	Sub	978	G=0.530	T=0.470
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.600	T=0.400
The Genome Aggregation Database	African	Sub	8706	G=0.821	T=0.179
The Genome Aggregation Database	American	Sub	832	G=0.680	T=0.320
The Genome Aggregation Database	East Asian	Sub	1618	G=0.649	T=0.351
The Genome Aggregation Database	Europe	Sub	18420	G=0.598	T=0.401
The Genome Aggregation Database	Global	Study-wide	29876	G=0.667	T=0.332
The Genome Aggregation Database	Other	Sub	300	G=0.510	T=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.682	T=0.317
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.574	T=0.426

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
rs2099269	0.000742	alcohol consumption (maxi-drinks)	24277619

eQTL of rs2099269 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 rs2099269 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 )
chr12	128288242	128288359	E067	28662
chr12	128293670	128294300	E067	34090
chr12	128294377	128294499	E067	34797
chr12	128294581	128295159	E067	35001
chr12	128288086	128288187	E068	28506
chr12	128288242	128288359	E068	28662
chr12	128293670	128294300	E068	34090
chr12	128294377	128294499	E068	34797
chr12	128294581	128295159	E068	35001
chr12	128295166	128295337	E068	35586
chr12	128307387	128307966	E068	47807
chr12	128256388	128256447	E069	-3133
chr12	128256890	128256940	E069	-2640
chr12	128256978	128257050	E069	-2530
chr12	128293670	128294300	E069	34090
chr12	128296384	128297200	E069	36804
chr12	128296384	128297200	E070	36804
chr12	128288086	128288187	E071	28506
chr12	128288242	128288359	E071	28662
chr12	128293670	128294300	E071	34090
chr12	128294377	128294499	E071	34797
chr12	128294581	128295159	E071	35001
chr12	128295166	128295337	E071	35586
chr12	128246968	128247018	E072	-12562
chr12	128288086	128288187	E072	28506
chr12	128288242	128288359	E072	28662
chr12	128293670	128294300	E072	34090
chr12	128294377	128294499	E072	34797
chr12	128294581	128295159	E072	35001
chr12	128303762	128303897	E072	44182
chr12	128304074	128304255	E072	44494
chr12	128304427	128304471	E072	44847
chr12	128256890	128256940	E073	-2640
chr12	128256978	128257050	E073	-2530
chr12	128258526	128258620	E073	-960
chr12	128258991	128259059	E073	-521
chr12	128259363	128259417	E073	-163
chr12	128259447	128259501	E073	-79
chr12	128259724	128259764	E073	144
chr12	128252285	128252647	E074	-6933
chr12	128256890	128256940	E074	-2640
chr12	128256978	128257050	E074	-2530
chr12	128270625	128270694	E074	11045
chr12	128270777	128270876	E074	11197
chr12	128288086	128288187	E074	28506
chr12	128288242	128288359	E074	28662
chr12	128293670	128294300	E074	34090
chr12	128294377	128294499	E074	34797
chr12	128294581	128295159	E074	35001
chr12	128229735	128229785	E081	-29795
chr12	128230087	128230709	E081	-28871
chr12	128230884	128230954	E081	-28626
chr12	128232277	128232327	E081	-27253
chr12	128232347	128232425	E081	-27155
chr12	128232566	128232798	E081	-26782
chr12	128272262	128272328	E081	12682
chr12	128274983	128275253	E081	15403
chr12	128275369	128275445	E081	15789
chr12	128275502	128275692	E081	15922
chr12	128275950	128276089	E081	16370
chr12	128215716	128215779	E082	-43801
chr12	128215800	128215965	E082	-43615
chr12	128230087	128230709	E082	-28871
chr12	128230884	128230954	E082	-28626
chr12	128231138	128231693	E082	-27887
chr12	128232566	128232798	E082	-26782
chr12	128270175	128270446	E082	10595