rs10759332

Homo sapiens
A>G
EPB41L4B : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr9:109171981 (GRCh38.p7) (9q31.3)
ND
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.109171981A>G
GRCh37.p13 chr 9NC_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 2NM_019114.4:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant 1NM_018424.3:c.N/AGenic Downstream Transcript Variant
EPB41L4B transcript variant X1XM_011518790.1:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant X2XM_011518791.2:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant X3XM_017014813.1:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant X4XM_011518792.2:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant X5XM_017014814.1:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant X6XM_011518794.2:c.N/A3 Prime UTR Variant
EPB41L4B transcript variant X7XM_017014815.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.991G=0.009
1000GenomesAmericanSub694A=0.900G=0.100
1000GenomesEast AsianSub1008A=0.822G=0.178
1000GenomesEuropeSub1006A=0.873G=0.127
1000GenomesGlobalStudy-wide5008A=0.909G=0.091
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.883G=0.117
The Genome Aggregation DatabaseAfricanSub8728A=0.973G=0.027
The Genome Aggregation DatabaseAmericanSub836A=0.880G=0.120
The Genome Aggregation DatabaseEast AsianSub1616A=0.836G=0.164
The Genome Aggregation DatabaseEuropeSub18484A=0.885G=0.114
The Genome Aggregation DatabaseGlobalStudy-wide29966A=0.907G=0.092
The Genome Aggregation DatabaseOtherSub302A=0.850G=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.917G=0.082
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.883G=0.117
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs107593320.000495nicotine smoking19268276

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 )
chr9111911391111911677E067-22584
chr9111942839111943113E0738578
chr9111942247111942328E0747986
chr9111942414111942495E0748153
chr9111942563111942766E0748302
chr9111942839111943113E0748578
chr9111908533111908688E081-25573




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9111928392111928598E067-5663
chr9111928632111928787E067-5474
chr9111928796111929134E067-5127
chr9111929139111929322E067-4939
chr9111929342111929973E067-4288
chr9111930011111930065E067-4196
chr9111930102111930176E067-4085
chr9111930181111930259E067-4002
chr9111927596111927759E068-6502
chr9111928392111928598E068-5663
chr9111928632111928787E068-5474
chr9111928796111929134E068-5127
chr9111929139111929322E068-4939
chr9111929342111929973E068-4288
chr9111930011111930065E068-4196
chr9111930102111930176E068-4085
chr9111930181111930259E068-4002
chr9111928392111928598E069-5663
chr9111928632111928787E069-5474
chr9111928796111929134E069-5127
chr9111929139111929322E069-4939
chr9111929342111929973E069-4288
chr9111930011111930065E069-4196
chr9111930102111930176E069-4085
chr9111930181111930259E069-4002
chr9111928632111928787E070-5474
chr9111928796111929134E070-5127
chr9111929139111929322E070-4939
chr9111929342111929973E070-4288
chr9111930011111930065E070-4196
chr9111930102111930176E070-4085
chr9111930181111930259E070-4002
chr9111928392111928598E071-5663
chr9111928632111928787E071-5474
chr9111928796111929134E071-5127
chr9111929139111929322E071-4939
chr9111929342111929973E071-4288
chr9111928392111928598E072-5663
chr9111928632111928787E072-5474
chr9111928796111929134E072-5127
chr9111929139111929322E072-4939
chr9111929342111929973E072-4288
chr9111930011111930065E072-4196
chr9111930102111930176E072-4085
chr9111930181111930259E072-4002
chr9111928392111928598E073-5663
chr9111928632111928787E073-5474
chr9111928796111929134E073-5127
chr9111929139111929322E073-4939
chr9111929342111929973E073-4288
chr9111930011111930065E073-4196
chr9111930102111930176E073-4085
chr9111930181111930259E073-4002
chr9111928632111928787E074-5474
chr9111928796111929134E074-5127
chr9111929139111929322E074-4939
chr9111929342111929973E074-4288
chr9111930011111930065E074-4196
chr9111930102111930176E074-4085
chr9111930181111930259E074-4002
chr9111928392111928598E082-5663
chr9111928632111928787E082-5474
chr9111928796111929134E082-5127
chr9111929139111929322E082-4939
chr9111929342111929973E082-4288