rs10211296

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CSRNP3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0343 (10280/29892,GnomAD)
G=0333 (9716/29118,TOPMED)
G=0277 (1385/5008,1000G)
G=0372 (1433/3854,ALSPAC)
G=0381 (1411/3708,TWINSUK)

Position: chr2:165633833 (GRCh38.p7) (2q24.3)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 121 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.165633833A>G
GRCh37.p13 chr 2	NC_000002.11:g.166490343A>G

Gene: CSRNP3, cysteine and serine rich nuclear protein 3(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CSRNP3 transcript variant 1	NM_001172173.1:c.	N/A	Intron Variant
CSRNP3 transcript variant 2	NM_024969.3:c.	N/A	Intron Variant
CSRNP3 transcript variant X2	XM_005246865.4:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.741	G=0.259
1000Genomes	American	Sub	694	A=0.630	G=0.370
1000Genomes	East Asian	Sub	1008	A=0.893	G=0.107
1000Genomes	Europe	Sub	1006	A=0.574	G=0.426
1000Genomes	Global	Study-wide	5008	A=0.723	G=0.277
1000Genomes	South Asian	Sub	978	A=0.740	G=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.628	G=0.372
The Genome Aggregation Database	African	Sub	8686	A=0.723	G=0.277
The Genome Aggregation Database	American	Sub	838	A=0.660	G=0.340
The Genome Aggregation Database	East Asian	Sub	1614	A=0.900	G=0.100
The Genome Aggregation Database	Europe	Sub	18452	A=0.602	G=0.397
The Genome Aggregation Database	Global	Study-wide	29892	A=0.656	G=0.343
The Genome Aggregation Database	Other	Sub	302	A=0.680	G=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.666	G=0.333
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.619	G=0.381

PMID	Title	Author	Journal
28990359	Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors.	Polimanti R	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs10211296	7E-09	alcohol dependence	28990359

eQTL of rs10211296 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 rs10211296 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 )
chr2	166477630	166478074	E067	-12269
chr2	166490931	166491070	E067	588
chr2	166491196	166491803	E067	853
chr2	166492156	166492380	E067	1813
chr2	166496942	166497001	E067	6599
chr2	166505169	166505253	E067	14826
chr2	166505452	166505620	E067	15109
chr2	166505647	166505721	E067	15304
chr2	166532019	166532569	E067	41676
chr2	166532754	166532922	E067	42411
chr2	166539122	166539324	E067	48779
chr2	166539443	166539598	E067	49100
chr2	166444695	166444745	E068	-45598
chr2	166484049	166484266	E068	-6077
chr2	166490931	166491070	E068	588
chr2	166491196	166491803	E068	853
chr2	166492156	166492380	E068	1813
chr2	166505452	166505620	E068	15109
chr2	166505647	166505721	E068	15304
chr2	166532019	166532569	E068	41676
chr2	166532754	166532922	E068	42411
chr2	166538363	166538478	E068	48020
chr2	166538480	166538652	E068	48137
chr2	166538663	166538927	E068	48320
chr2	166539122	166539324	E068	48779
chr2	166539443	166539598	E068	49100
chr2	166477630	166478074	E069	-12269
chr2	166490805	166490885	E069	462
chr2	166490931	166491070	E069	588
chr2	166491196	166491803	E069	853
chr2	166492156	166492380	E069	1813
chr2	166518422	166518512	E069	28079
chr2	166532019	166532569	E069	41676
chr2	166532754	166532922	E069	42411
chr2	166535409	166535543	E069	45066
chr2	166535667	166535768	E069	45324
chr2	166538363	166538478	E069	48020
chr2	166539122	166539324	E069	48779
chr2	166539443	166539598	E069	49100
chr2	166490805	166490885	E070	462
chr2	166490931	166491070	E070	588
chr2	166491196	166491803	E070	853
chr2	166502452	166502638	E070	12109
chr2	166502688	166502792	E070	12345
chr2	166505452	166505620	E070	15109
chr2	166505647	166505721	E070	15304
chr2	166539122	166539324	E070	48779
chr2	166539443	166539598	E070	49100
chr2	166477630	166478074	E071	-12269
chr2	166489909	166490227	E071	-116
chr2	166490282	166490414	E071	0
chr2	166490805	166490885	E071	462
chr2	166490931	166491070	E071	588
chr2	166491196	166491803	E071	853
chr2	166492156	166492380	E071	1813
chr2	166496942	166497001	E071	6599
chr2	166502452	166502638	E071	12109
chr2	166502688	166502792	E071	12345
chr2	166505452	166505620	E071	15109
chr2	166505647	166505721	E071	15304
chr2	166532019	166532569	E071	41676
chr2	166532754	166532922	E071	42411
chr2	166538480	166538652	E071	48137
chr2	166538663	166538927	E071	48320
chr2	166539122	166539324	E071	48779
chr2	166539443	166539598	E071	49100
chr2	166474728	166474880	E072	-15463
chr2	166490805	166490885	E072	462
chr2	166490931	166491070	E072	588
chr2	166492156	166492380	E072	1813
chr2	166535667	166535768	E072	45324
chr2	166539122	166539324	E072	48779
chr2	166539443	166539598	E072	49100
chr2	166490805	166490885	E073	462
chr2	166490931	166491070	E073	588
chr2	166491196	166491803	E073	853
chr2	166532019	166532569	E073	41676
chr2	166535667	166535768	E073	45324
chr2	166538663	166538927	E073	48320
chr2	166539122	166539324	E073	48779
chr2	166539443	166539598	E073	49100
chr2	166474728	166474880	E074	-15463
chr2	166477630	166478074	E074	-12269
chr2	166490931	166491070	E074	588
chr2	166491196	166491803	E074	853
chr2	166505452	166505620	E074	15109
chr2	166505647	166505721	E074	15304
chr2	166532019	166532569	E074	41676
chr2	166532754	166532922	E074	42411
chr2	166538480	166538652	E074	48137
chr2	166538663	166538927	E074	48320
chr2	166539122	166539324	E074	48779
chr2	166539443	166539598	E074	49100
chr2	166443946	166444057	E081	-46286
chr2	166444126	166444245	E081	-46098
chr2	166444695	166444745	E081	-45598
chr2	166444905	166445083	E081	-45260
chr2	166474728	166474880	E081	-15463
chr2	166491196	166491803	E081	853
chr2	166496942	166497001	E081	6599
chr2	166498400	166498593	E081	8057
chr2	166498697	166498907	E081	8354
chr2	166502452	166502638	E081	12109
chr2	166502688	166502792	E081	12345
chr2	166505169	166505253	E081	14826
chr2	166505452	166505620	E081	15109
chr2	166505647	166505721	E081	15304
chr2	166535409	166535543	E081	45066
chr2	166535667	166535768	E081	45324
chr2	166536026	166536651	E081	45683
chr2	166536749	166536875	E081	46406
chr2	166539122	166539324	E081	48779
chr2	166474728	166474880	E082	-15463
chr2	166490931	166491070	E082	588
chr2	166491196	166491803	E082	853
chr2	166505452	166505620	E082	15109
chr2	166505647	166505721	E082	15304
chr2	166535409	166535543	E082	45066
chr2	166535667	166535768	E082	45324
chr2	166539122	166539324	E082	48779
chr2	166539443	166539598	E082	49100