rs34878344

Homo sapiens
C>A / C>T
ESPNL : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0113 (3393/29902,GnomAD)
C==0123 (1598/12944,GO-ESP)
A=0135 (677/5008,1000G)
A=0171 (660/3854,ALSPAC)
A=0186 (688/3708,TWINSUK)
chr2:238102049 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
44 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.238102049C>A
GRCh38.p7 chr 2NC_000002.12:g.238102049C>T
GRCh37.p13 chr 2NC_000002.11:g.239010690C>A
GRCh37.p13 chr 2NC_000002.11:g.239010690C>T

Gene: ESPNL, espin-like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ESPNL transcript variant 2NM_001308370.1:c.N/AGenic Upstream Transcript Variant
ESPNL transcript variant 1NM_194312.3:c.403C>AR [CGG]> R [AGG]Coding Sequence Variant
espin-like protein isoform 1NP_919288.2:p.Arg...NP_919288.2:p.Arg135=R [Arg]> R [Arg]Synonymous Variant
ESPNL transcript variant 1NM_194312.3:c.403C>TR [CGG]> W [TGG]Coding Sequence Variant
espin-like protein isoform 1NP_919288.2:p.Arg...NP_919288.2:p.Arg135TrpR [Arg]> W [Trp]Missense Variant
ESPNL transcript variant X1XM_011511087.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.953A=0.047
1000GenomesAmericanSub694C=0.830A=0.170
1000GenomesEast AsianSub1008C=0.970A=0.030
1000GenomesEuropeSub1006C=0.842A=0.158
1000GenomesGlobalStudy-wide5008C=0.865A=0.135
1000GenomesSouth AsianSub978C=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.829A=0.171
The Genome Aggregation DatabaseAfricanSub8698C=0.929A=0.071
The Genome Aggregation DatabaseAmericanSub838C=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1622C=0.975A=0.025
The Genome Aggregation DatabaseEuropeSub18442C=0.861A=0.138
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.886A=0.113
The Genome Aggregation DatabaseOtherSub302C=0.890A=0.110
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.814A=0.186
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs348783440.000127alcohol consumption23743675

eQTL of rs34878344 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:239010690SCLYENSG00000132330.12C>A7.8532e-1041160Cerebellum
Chr2:239010690SCLYENSG00000132330.12C>A1.0714e-841160Cortex
Chr2:239010690SCLYENSG00000132330.12C>A2.0850e-841160Cerebellar_Hemisphere

meQTL of rs34878344 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06462263479058882.4442e-14

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 )
chr2238950342238950447E067-48134
chr2238951505238951913E067-46668
chr2238970839238970899E067-27682
chr2238990205238990255E067-8326
chr2238990452238990751E067-7830
chr2238970839238970899E068-27682
chr2239017313239017876E06818732
chr2238951505238951913E069-46668
chr2238970839238970899E069-27682
chr2238989790238989866E069-8715
chr2238989941238990032E069-8549
chr2238990205238990255E069-8326
chr2238970839238970899E070-27682
chr2238950342238950447E071-48134
chr2238951505238951913E071-46668
chr2238951961238952020E071-46561
chr2238970839238970899E071-27682
chr2238989247238989354E071-9227
chr2238989790238989866E071-8715
chr2238989941238990032E071-8549
chr2238990205238990255E071-8326
chr2238990452238990751E071-7830
chr2239007116239007529E0718535
chr2239017176239017226E07118595
chr2239017313239017876E07118732
chr2238950342238950447E072-48134
chr2238989790238989866E072-8715
chr2238989941238990032E072-8549
chr2238990205238990255E072-8326
chr2238990452238990751E072-7830
chr2239014417239014467E07215836
chr2239014951239015001E07216370
chr2238970839238970899E073-27682
chr2239014951239015001E07316370
chr2238950342238950447E074-48134
chr2238951505238951913E074-46668
chr2238989790238989866E074-8715
chr2238989941238990032E074-8549
chr2238990452238990751E074-7830
chr2239017313239017876E07418732
chr2238994008238994058E081-4523
chr2238994372238994803E081-3778
chr2238993565238993671E082-4910
chr2238994008238994058E082-4523










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238968700238970607E067-27974
chr2238968700238970607E068-27974
chr2238968700238970607E069-27974
chr2238968700238970607E070-27974
chr2238968700238970607E071-27974
chr2238968700238970607E072-27974
chr2238968700238970607E073-27974
chr2238968700238970607E074-27974
chr2238968700238970607E081-27974
chr2238968700238970607E082-27974