rs9657521

Organism: Homo sapiens

Alleles: A>C / A>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0318 (9536/29916,GnomAD)
C=0404 (2024/5008,1000G)

Position: chr8:11972993 (GRCh38.p7) (8p23.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 6 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.11972993A>C
GRCh38.p7 chr 8	NC_000008.11:g.11972993A>T
GRCh37.p13 chr 8	NC_000008.10:g.11830502A>C
GRCh37.p13 chr 8	NC_000008.10:g.11830502A>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.662	C=0.315
1000Genomes	American	Sub	694	A=0.690	C=0.31,
1000Genomes	East Asian	Sub	1008	A=0.471	C=0.529
1000Genomes	Europe	Sub	1006	A=0.693	C=0.307
1000Genomes	Global	Study-wide	5008	A=0.590	C=0.404
1000Genomes	South Asian	Sub	978	A=0.430	C=0.57,
The Genome Aggregation Database	African	Sub	8702	A=0.658	T=0.027
The Genome Aggregation Database	American	Sub	834	A=0.670	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	A=0.494	T=0.000
The Genome Aggregation Database	Europe	Sub	18460	A=0.694	T=0.000
The Genome Aggregation Database	Global	Study-wide	29916	A=0.673	T=0.008
The Genome Aggregation Database	Other	Sub	302	A=0.760	T=0.00,

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
rs9657521	0.000941	alcohol dependence	24277619

eQTL of rs9657521 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr8:11830502	RP11-481A20.10	ENSG00000254507.2	A>C	8.0518e-24	-31089	Cerebellum
Chr8:11830502	RP11-481A20.11	ENSG00000255098.1	A>C	6.4411e-20	-42541	Cerebellum
Chr8:11830502	RP11-481A20.10	ENSG00000254507.2	A>C	2.1118e-12	-31089	Frontal_Cortex_BA9
Chr8:11830502	AF131216.5	ENSG00000255020.1	A>C	1.7798e-11	625491	Cortex
Chr8:11830502	RP11-481A20.10	ENSG00000254507.2	A>C	1.2140e-19	-31089	Cerebellar_Hemisphere
Chr8:11830502	RP11-481A20.11	ENSG00000255098.1	A>C	3.5424e-19	-42541	Cerebellar_Hemisphere
Chr8:11830502	FAM66A	ENSG00000227888.3	A>C	3.3520e-10	-389025	Cerebellar_Hemisphere
Chr8:11830502	RP11-351I21.7	ENSG00000254423.1	A>C	9.1850e-7	-402553	Cerebellar_Hemisphere
Chr8:11830502	RP11-351I21.6	ENSG00000255556.2	A>C	1.7321e-7	-407272	Cerebellar_Hemisphere
Chr8:11830502	FAM66A	ENSG00000227888.3	A>C	4.6289e-13	-389025	Caudate_basal_ganglia
Chr8:11830502	RP11-351I21.6	ENSG00000255556.2	A>C	4.1891e-7	-407272	Caudate_basal_ganglia
Chr8:11830502	FAM66A	ENSG00000227888.3	A>C	2.3347e-4	-389025	Brain_Spinal_cord_cervical
Chr8:11830502	RP11-481A20.10	ENSG00000254507.2	A>C	2.7028e-4	-31089	Hippocampus
Chr8:11830502	CTSB	ENSG00000164733.16	A>C	1.6498e-4	103545	Nucleus_accumbens_basal_ganglia
Chr8:11830502	FAM66A	ENSG00000227888.3	A>C	5.6510e-10	-389025	Nucleus_accumbens_basal_ganglia

meQTL of rs9657521 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.

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	55382375	55382925	E068	3707
chr8	55382959	55383339	E068	4291
chr8	55382375	55382925	E069	3707
chr8	55382959	55383339	E073	4291
chr8	55382375	55382925	E082	3707
chr8	55382959	55383339	E082	4291