rs12684047

Homo sapiens
T>A
EPB41L4B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0149 (4474/29970,GnomAD)
A=0121 (3542/29118,TOPMED)
A=0157 (786/5008,1000G)
A=0186 (718/3854,ALSPAC)
A=0196 (728/3708,TWINSUK)
chr9:109210391 (GRCh38.p7) (9q31.3)
ND
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
65 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.109210391T>A
GRCh37.p13 chr 9NC_000009.11:g.111972671T>A

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/AIntron Variant
EPB41L4B transcript variant 1NM_018424.3:c.N/AGenic Downstream Transcript Variant
EPB41L4B transcript variant X1XM_011518790.1:c.N/AIntron Variant
EPB41L4B transcript variant X2XM_011518791.2:c.N/AIntron Variant
EPB41L4B transcript variant X4XM_011518792.2:c.N/AIntron Variant
EPB41L4B transcript variant X6XM_011518794.2:c.N/AIntron Variant
EPB41L4B transcript variant X3XM_017014813.1:c.N/AIntron Variant
EPB41L4B transcript variant X5XM_017014814.1:c.N/AIntron Variant
EPB41L4B transcript variant X7XM_017014815.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.992A=0.008
1000GenomesAmericanSub694T=0.740A=0.260
1000GenomesEast AsianSub1008T=0.727A=0.273
1000GenomesEuropeSub1006T=0.807A=0.193
1000GenomesGlobalStudy-wide5008T=0.843A=0.157
1000GenomesSouth AsianSub978T=0.870A=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.814A=0.186
The Genome Aggregation DatabaseAfricanSub8724T=0.965A=0.035
The Genome Aggregation DatabaseAmericanSub838T=0.760A=0.240
The Genome Aggregation DatabaseEast AsianSub1616T=0.733A=0.267
The Genome Aggregation DatabaseEuropeSub18492T=0.812A=0.187
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.850A=0.149
The Genome Aggregation DatabaseOtherSub300T=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.878A=0.121
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.804A=0.196
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
rs126840470.000322nicotine smoking19268276

eQTL of rs12684047 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 rs12684047 in Fetal Brain

Probe ID Position Gene beta p-value
cg14432460chr9:111696404C9orf6|IKBKAP0.01059436467475579.6993e-17

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 )
chr9111994751111995319E06722080
chr9112005762112005806E06733091
chr9112005894112005938E06733223
chr9112006089112006139E06733418
chr9112006407112006458E06833736
chr9112006533112006604E06833862
chr9112020795112020874E06848124
chr9112020965112021333E06848294
chr9112006760112007514E06934089
chr9112005762112005806E07033091
chr9112005894112005938E07033223
chr9112006089112006139E07033418
chr9112006201112006322E07033530
chr9112006407112006458E07033736
chr9112006533112006604E07033862
chr9112006760112007514E07134089
chr9112005762112005806E07233091
chr9112005894112005938E07233223
chr9112006089112006139E07233418
chr9112006201112006322E07233530
chr9112006407112006458E07233736
chr9112006533112006604E07233862
chr9112006760112007514E07234089
chr9111942839111943113E073-29558
chr9112006760112007514E07334089
chr9112020795112020874E07348124
chr9112020965112021333E07348294
chr9112021415112021841E07348744
chr9112022116112022190E07349445
chr9111942247111942328E074-30343
chr9111942414111942495E074-30176
chr9111942563111942766E074-29905
chr9111942839111943113E074-29558
chr9112006760112007514E07434089
chr9112007752112008000E07435081
chr9112005519112005567E08132848
chr9112005762112005806E08133091
chr9112005894112005938E08133223
chr9112006089112006139E08133418
chr9112020965112021333E08248294










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9111928392111928598E067-44073
chr9111928632111928787E067-43884
chr9111928796111929134E067-43537
chr9111929139111929322E067-43349
chr9111929342111929973E067-42698
chr9111930011111930065E067-42606
chr9111930102111930176E067-42495
chr9111930181111930259E067-42412
chr9111927596111927759E068-44912
chr9111928392111928598E068-44073
chr9111928632111928787E068-43884
chr9111928796111929134E068-43537
chr9111929139111929322E068-43349
chr9111929342111929973E068-42698
chr9111930011111930065E068-42606
chr9111930102111930176E068-42495
chr9111930181111930259E068-42412
chr9111928392111928598E069-44073
chr9111928632111928787E069-43884
chr9111928796111929134E069-43537
chr9111929139111929322E069-43349
chr9111929342111929973E069-42698
chr9111930011111930065E069-42606
chr9111930102111930176E069-42495
chr9111930181111930259E069-42412
chr9111928632111928787E070-43884
chr9111928796111929134E070-43537
chr9111929139111929322E070-43349
chr9111929342111929973E070-42698
chr9111930011111930065E070-42606
chr9111930102111930176E070-42495
chr9111930181111930259E070-42412
chr9111928392111928598E071-44073
chr9111928632111928787E071-43884
chr9111928796111929134E071-43537
chr9111929139111929322E071-43349
chr9111929342111929973E071-42698
chr9111928392111928598E072-44073
chr9111928632111928787E072-43884
chr9111928796111929134E072-43537
chr9111929139111929322E072-43349
chr9111929342111929973E072-42698
chr9111930011111930065E072-42606
chr9111930102111930176E072-42495
chr9111930181111930259E072-42412
chr9111928392111928598E073-44073
chr9111928632111928787E073-43884
chr9111928796111929134E073-43537
chr9111929139111929322E073-43349
chr9111929342111929973E073-42698
chr9111930011111930065E073-42606
chr9111930102111930176E073-42495
chr9111930181111930259E073-42412
chr9111928632111928787E074-43884
chr9111928796111929134E074-43537
chr9111929139111929322E074-43349
chr9111929342111929973E074-42698
chr9111930011111930065E074-42606
chr9111930102111930176E074-42495
chr9111930181111930259E074-42412
chr9111928392111928598E082-44073
chr9111928632111928787E082-43884
chr9111928796111929134E082-43537
chr9111929139111929322E082-43349
chr9111929342111929973E082-42698