rs62196014

Homo sapiens
C>G
ESPNL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0124 (3709/29882,GnomAD)
G=0127 (3717/29118,TOPMED)
G=0147 (735/5008,1000G)
G=0177 (681/3854,ALSPAC)
G=0188 (698/3708,TWINSUK)
chr2:238101526 (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.238101526C>G
GRCh37.p13 chr 2NC_000002.11:g.239010167C>G

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=0.915G=0.085
1000GenomesAmericanSub694C=0.820G=0.180
1000GenomesEast AsianSub1008C=0.971G=0.029
1000GenomesEuropeSub1006C=0.838G=0.162
1000GenomesGlobalStudy-wide5008C=0.853G=0.147
1000GenomesSouth AsianSub978C=0.690G=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.823G=0.177
The Genome Aggregation DatabaseAfricanSub8708C=0.901G=0.099
The Genome Aggregation DatabaseAmericanSub836C=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1614C=0.976G=0.024
The Genome Aggregation DatabaseEuropeSub18422C=0.857G=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29882C=0.875G=0.124
The Genome Aggregation DatabaseOtherSub302C=0.890G=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.872G=0.127
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.812G=0.188
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
rs621960140.000115alcohol consumption23743675

eQTL of rs62196014 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:239010167SCLYENSG00000132330.12C>G7.8532e-1040637Cerebellum
Chr2:239010167SCLYENSG00000132330.12C>G1.0714e-840637Cortex
Chr2:239010167SCLYENSG00000132330.12C>G2.0850e-840637Cerebellar_Hemisphere
Chr2:239010167SCLYENSG00000132330.12C>G1.4177e-340637Caudate_basal_ganglia
Chr2:239010167SCLYENSG00000132330.12C>G7.2091e-440637Anterior_cingulate_cortex

meQTL of rs62196014 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.06591855207625551.2706e-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 )
chr2238970839238970899E067-39268
chr2238990205238990255E067-19912
chr2238990452238990751E067-19416
chr2238970839238970899E068-39268
chr2239017313239017876E0687146
chr2238970839238970899E069-39268
chr2238989790238989866E069-20301
chr2238989941238990032E069-20135
chr2238990205238990255E069-19912
chr2238970839238970899E070-39268
chr2238970839238970899E071-39268
chr2238989247238989354E071-20813
chr2238989790238989866E071-20301
chr2238989941238990032E071-20135
chr2238990205238990255E071-19912
chr2238990452238990751E071-19416
chr2239007116239007529E071-2638
chr2239017176239017226E0717009
chr2239017313239017876E0717146
chr2238989790238989866E072-20301
chr2238989941238990032E072-20135
chr2238990205238990255E072-19912
chr2238990452238990751E072-19416
chr2239014417239014467E0724250
chr2239014951239015001E0724784
chr2238970839238970899E073-39268
chr2239014951239015001E0734784
chr2238989790238989866E074-20301
chr2238989941238990032E074-20135
chr2238990452238990751E074-19416
chr2239017313239017876E0747146
chr2238994008238994058E081-16109
chr2238994372238994803E081-15364
chr2238993565238993671E082-16496
chr2238994008238994058E082-16109










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238968700238970607E067-39560
chr2238968700238970607E068-39560
chr2238968700238970607E069-39560
chr2238968700238970607E070-39560
chr2238968700238970607E071-39560
chr2238968700238970607E072-39560
chr2238968700238970607E073-39560
chr2238968700238970607E074-39560
chr2238968700238970607E081-39560
chr2238968700238970607E082-39560