rs1543632

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0303 (9088/29940,GnomAD)
C==0252 (7348/29118,TOPMED)
C==0187 (934/5008,1000G)
C==0409 (1575/3854,ALSPAC)
C==0416 (1543/3708,TWINSUK)

Position: chr1:38282288 (GRCh38.p7) (1p34.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 78 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.38282288C>T
GRCh37.p13 chr 1	NC_000001.10:g.38747960C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.053	T=0.947
1000Genomes	American	Sub	694	C=0.240	T=0.760
1000Genomes	East Asian	Sub	1008	C=0.020	T=0.980
1000Genomes	Europe	Sub	1006	C=0.433	T=0.567
1000Genomes	Global	Study-wide	5008	C=0.187	T=0.813
1000Genomes	South Asian	Sub	978	C=0.240	T=0.760
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.409	T=0.591
The Genome Aggregation Database	African	Sub	8716	C=0.102	T=0.898
The Genome Aggregation Database	American	Sub	836	C=0.220	T=0.780
The Genome Aggregation Database	East Asian	Sub	1620	C=0.015	T=0.985
The Genome Aggregation Database	Europe	Sub	18466	C=0.425	T=0.574
The Genome Aggregation Database	Global	Study-wide	29940	C=0.303	T=0.696
The Genome Aggregation Database	Other	Sub	302	C=0.430	T=0.570
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.252	T=0.747
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.416	T=0.584

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
rs1543632	0.000697	alcohol consumption (maxi-drinks)	24277619

eQTL of rs1543632 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 rs1543632 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	38792746	38792881	E067	44786
chr1	38793395	38793452	E067	45435
chr1	38793654	38793704	E067	45694
chr1	38794092	38794193	E067	46132
chr1	38757511	38758403	E068	9551
chr1	38792746	38792881	E068	44786
chr1	38793654	38793704	E068	45694
chr1	38794092	38794193	E068	46132
chr1	38740785	38740966	E069	-6994
chr1	38757511	38758403	E069	9551
chr1	38792746	38792881	E069	44786
chr1	38793395	38793452	E069	45435
chr1	38793654	38793704	E069	45694
chr1	38794092	38794193	E069	46132
chr1	38708868	38708932	E070	-39028
chr1	38709785	38709922	E070	-38038
chr1	38710002	38710295	E070	-37665
chr1	38710341	38710543	E070	-37417
chr1	38712002	38712110	E070	-35850
chr1	38712491	38712605	E070	-35355
chr1	38712640	38712891	E070	-35069
chr1	38713137	38713230	E070	-34730
chr1	38713329	38713660	E070	-34300
chr1	38714219	38714302	E070	-33658
chr1	38714350	38714423	E070	-33537
chr1	38723788	38723861	E070	-24099
chr1	38724053	38724125	E070	-23835
chr1	38735743	38735860	E070	-12100
chr1	38735900	38736651	E070	-11309
chr1	38737003	38737158	E070	-10802
chr1	38740785	38740966	E070	-6994
chr1	38741111	38741184	E070	-6776
chr1	38757056	38757250	E070	9096
chr1	38757375	38757503	E070	9415
chr1	38757511	38758403	E070	9551
chr1	38792746	38792881	E070	44786
chr1	38793395	38793452	E070	45435
chr1	38793654	38793704	E070	45694
chr1	38794092	38794193	E070	46132
chr1	38740785	38740966	E071	-6994
chr1	38741111	38741184	E071	-6776
chr1	38741255	38741376	E071	-6584
chr1	38757375	38757503	E071	9415
chr1	38757511	38758403	E071	9551
chr1	38793654	38793704	E071	45694
chr1	38794092	38794193	E071	46132
chr1	38792746	38792881	E072	44786
chr1	38793395	38793452	E072	45435
chr1	38793654	38793704	E072	45694
chr1	38794092	38794193	E072	46132
chr1	38758524	38758668	E073	10564
chr1	38793395	38793452	E073	45435
chr1	38793654	38793704	E073	45694
chr1	38794092	38794193	E073	46132
chr1	38740785	38740966	E074	-6994
chr1	38741111	38741184	E074	-6776
chr1	38741255	38741376	E074	-6584
chr1	38741459	38741663	E074	-6297
chr1	38794092	38794193	E074	46132
chr1	38709785	38709922	E081	-38038
chr1	38710002	38710295	E081	-37665
chr1	38710341	38710543	E081	-37417
chr1	38714350	38714423	E081	-33537
chr1	38735900	38736651	E081	-11309
chr1	38738959	38739161	E081	-8799
chr1	38739321	38739374	E081	-8586
chr1	38739583	38739643	E081	-8317
chr1	38739996	38740056	E081	-7904
chr1	38740260	38740346	E081	-7614
chr1	38794092	38794193	E081	46132
chr1	38709785	38709922	E082	-38038
chr1	38710002	38710295	E082	-37665
chr1	38710341	38710543	E082	-37417
chr1	38714219	38714302	E082	-33658
chr1	38714350	38714423	E082	-33537
chr1	38792746	38792881	E082	44786
chr1	38793395	38793452	E082	45435
chr1	38793654	38793704	E082	45694