rs10759332

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

EPB41L4B : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0092 (2764/29966,GnomAD)
G=0082 (2398/29118,TOPMED)
G=0091 (456/5008,1000G)
G=0117 (451/3854,ALSPAC)
G=0117 (433/3708,TWINSUK)

Position: chr9:109171981 (GRCh38.p7) (9q31.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 7 Enhancers around

Promoter: 65 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.109171981A>G
GRCh37.p13 chr 9	NC_000009.11:g.111934261A>G

Gene: EPB41L4B, erythrocyte membrane protein band 4.1 like 4B(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EPB41L4B transcript variant 2	NM_019114.4:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant 1	NM_018424.3:c.	N/A	Genic Downstream Transcript Variant
EPB41L4B transcript variant X1	XM_011518790.1:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant X2	XM_011518791.2:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant X3	XM_017014813.1:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant X4	XM_011518792.2:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant X5	XM_017014814.1:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant X6	XM_011518794.2:c.	N/A	3 Prime UTR Variant
EPB41L4B transcript variant X7	XM_017014815.1:c.	N/A	3 Prime UTR Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.991	G=0.009
1000Genomes	American	Sub	694	A=0.900	G=0.100
1000Genomes	East Asian	Sub	1008	A=0.822	G=0.178
1000Genomes	Europe	Sub	1006	A=0.873	G=0.127
1000Genomes	Global	Study-wide	5008	A=0.909	G=0.091
1000Genomes	South Asian	Sub	978	A=0.930	G=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.883	G=0.117
The Genome Aggregation Database	African	Sub	8728	A=0.973	G=0.027
The Genome Aggregation Database	American	Sub	836	A=0.880	G=0.120
The Genome Aggregation Database	East Asian	Sub	1616	A=0.836	G=0.164
The Genome Aggregation Database	Europe	Sub	18484	A=0.885	G=0.114
The Genome Aggregation Database	Global	Study-wide	29966	A=0.907	G=0.092
The Genome Aggregation Database	Other	Sub	302	A=0.850	G=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.917	G=0.082
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.883	G=0.117

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs10759332	0.000495	nicotine smoking	19268276

eQTL of rs10759332 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 rs10759332 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 )
chr9	111911391	111911677	E067	-22584
chr9	111942839	111943113	E073	8578
chr9	111942247	111942328	E074	7986
chr9	111942414	111942495	E074	8153
chr9	111942563	111942766	E074	8302
chr9	111942839	111943113	E074	8578
chr9	111908533	111908688	E081	-25573

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr9	111928392	111928598	E067	-5663
chr9	111928632	111928787	E067	-5474
chr9	111928796	111929134	E067	-5127
chr9	111929139	111929322	E067	-4939
chr9	111929342	111929973	E067	-4288
chr9	111930011	111930065	E067	-4196
chr9	111930102	111930176	E067	-4085
chr9	111930181	111930259	E067	-4002
chr9	111927596	111927759	E068	-6502
chr9	111928392	111928598	E068	-5663
chr9	111928632	111928787	E068	-5474
chr9	111928796	111929134	E068	-5127
chr9	111929139	111929322	E068	-4939
chr9	111929342	111929973	E068	-4288
chr9	111930011	111930065	E068	-4196
chr9	111930102	111930176	E068	-4085
chr9	111930181	111930259	E068	-4002
chr9	111928392	111928598	E069	-5663
chr9	111928632	111928787	E069	-5474
chr9	111928796	111929134	E069	-5127
chr9	111929139	111929322	E069	-4939
chr9	111929342	111929973	E069	-4288
chr9	111930011	111930065	E069	-4196
chr9	111930102	111930176	E069	-4085
chr9	111930181	111930259	E069	-4002
chr9	111928632	111928787	E070	-5474
chr9	111928796	111929134	E070	-5127
chr9	111929139	111929322	E070	-4939
chr9	111929342	111929973	E070	-4288
chr9	111930011	111930065	E070	-4196
chr9	111930102	111930176	E070	-4085
chr9	111930181	111930259	E070	-4002
chr9	111928392	111928598	E071	-5663
chr9	111928632	111928787	E071	-5474
chr9	111928796	111929134	E071	-5127
chr9	111929139	111929322	E071	-4939
chr9	111929342	111929973	E071	-4288
chr9	111928392	111928598	E072	-5663
chr9	111928632	111928787	E072	-5474
chr9	111928796	111929134	E072	-5127
chr9	111929139	111929322	E072	-4939
chr9	111929342	111929973	E072	-4288
chr9	111930011	111930065	E072	-4196
chr9	111930102	111930176	E072	-4085
chr9	111930181	111930259	E072	-4002
chr9	111928392	111928598	E073	-5663
chr9	111928632	111928787	E073	-5474
chr9	111928796	111929134	E073	-5127
chr9	111929139	111929322	E073	-4939
chr9	111929342	111929973	E073	-4288
chr9	111930011	111930065	E073	-4196
chr9	111930102	111930176	E073	-4085
chr9	111930181	111930259	E073	-4002
chr9	111928632	111928787	E074	-5474
chr9	111928796	111929134	E074	-5127
chr9	111929139	111929322	E074	-4939
chr9	111929342	111929973	E074	-4288
chr9	111930011	111930065	E074	-4196
chr9	111930102	111930176	E074	-4085
chr9	111930181	111930259	E074	-4002
chr9	111928392	111928598	E082	-5663
chr9	111928632	111928787	E082	-5474
chr9	111928796	111929134	E082	-5127
chr9	111929139	111929322	E082	-4939
chr9	111929342	111929973	E082	-4288