rs4663837

Homo sapiens
C>A / C>T
ESPNL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0122 (3639/29840,GnomAD)
T=0144 (721/5008,1000G)
T=0176 (677/3854,ALSPAC)
T=0187 (694/3708,TWINSUK)
chr2:238105200 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.238105200C>A
GRCh38.p7 chr 2NC_000002.12:g.238105200C>T
GRCh37.p13 chr 2NC_000002.11:g.239013841C>A
GRCh37.p13 chr 2NC_000002.11:g.239013841C>T

Gene: ESPNL, espin-like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ESPNL transcript variant 1NM_194312.3:c.N/AIntron Variant
ESPNL transcript variant 2NM_001308370.1:c.N/AGenic Upstream Transcript Variant
ESPNL transcript variant X1XM_011511087.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.855A=0.064
1000GenomesAmericanSub694C=0.820A=0.01,
1000GenomesEast AsianSub1008C=0.969A=0.001
1000GenomesEuropeSub1006C=0.847A=0.000
1000GenomesGlobalStudy-wide5008C=0.838A=0.018
1000GenomesSouth AsianSub978C=0.690A=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.824T=0.176
The Genome Aggregation DatabaseAfricanSub8688C=0.852A=0.050
The Genome Aggregation DatabaseAmericanSub838C=0.820A=0.01,
The Genome Aggregation DatabaseEast AsianSub1618C=0.975A=0.000
The Genome Aggregation DatabaseEuropeSub18394C=0.860A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29840C=0.863A=0.014
The Genome Aggregation DatabaseOtherSub302C=0.900A=0.00,
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.813T=0.187
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
rs46638370.000131alcohol consumption23743675

eQTL of rs4663837 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:239013841SCLYENSG00000132330.12C>T7.8532e-1044311Cerebellum
Chr2:239013841SCLYENSG00000132330.12C>T2.8719e-444311Frontal_Cortex_BA9
Chr2:239013841SCLYENSG00000132330.12C>T1.0714e-844311Cortex
Chr2:239013841SCLYENSG00000132330.12C>T2.0850e-844311Cerebellar_Hemisphere
Chr2:239013841SCLYENSG00000132330.12C>T1.4177e-344311Caudate_basal_ganglia
Chr2:239013841SCLYENSG00000132330.12C>T7.2091e-444311Anterior_cingulate_cortex

meQTL of rs4663837 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06453557400157633.5581e-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 )
chr2238970839238970899E067-37643
chr2238990205238990255E067-18287
chr2238990452238990751E067-17791
chr2238970839238970899E068-37643
chr2239017313239017876E0688771
chr2238970839238970899E069-37643
chr2238989790238989866E069-18676
chr2238989941238990032E069-18510
chr2238990205238990255E069-18287
chr2238970839238970899E070-37643
chr2238970839238970899E071-37643
chr2238989247238989354E071-19188
chr2238989790238989866E071-18676
chr2238989941238990032E071-18510
chr2238990205238990255E071-18287
chr2238990452238990751E071-17791
chr2239007116239007529E071-1013
chr2239017176239017226E0718634
chr2239017313239017876E0718771
chr2238989790238989866E072-18676
chr2238989941238990032E072-18510
chr2238990205238990255E072-18287
chr2238990452238990751E072-17791
chr2239014417239014467E0725875
chr2239014951239015001E0726409
chr2238970839238970899E073-37643
chr2239014951239015001E0736409
chr2238989790238989866E074-18676
chr2238989941238990032E074-18510
chr2238990452238990751E074-17791
chr2239017313239017876E0748771
chr2238994008238994058E081-14484
chr2238994372238994803E081-13739
chr2238993565238993671E082-14871
chr2238994008238994058E082-14484










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238968700238970607E067-37935
chr2238968700238970607E068-37935
chr2238968700238970607E069-37935
chr2238968700238970607E070-37935
chr2238968700238970607E071-37935
chr2238968700238970607E072-37935
chr2238968700238970607E073-37935
chr2238968700238970607E074-37935
chr2238968700238970607E081-37935
chr2238968700238970607E082-37935