rs62197363

Homo sapiens
T>C
ESPNL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0120 (3603/29910,GnomAD)
C=0123 (3599/29118,TOPMED)
C=0145 (724/5008,1000G)
C=0176 (680/3854,ALSPAC)
C=0181 (672/3708,TWINSUK)
chr2:238120099 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.238120099T>C
GRCh37.p13 chr 2NC_000002.11:g.239028740T>C

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
1000GenomesAfricanSub1322T=0.928C=0.072
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.971C=0.029
1000GenomesEuropeSub1006T=0.845C=0.155
1000GenomesGlobalStudy-wide5008T=0.855C=0.145
1000GenomesSouth AsianSub978T=0.670C=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.824C=0.176
The Genome Aggregation DatabaseAfricanSub8700T=0.909C=0.091
The Genome Aggregation DatabaseAmericanSub838T=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1620T=0.977C=0.023
The Genome Aggregation DatabaseEuropeSub18450T=0.859C=0.140
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.879C=0.120
The Genome Aggregation DatabaseOtherSub302T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.876C=0.123
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.819C=0.181
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
rs621973639.99E-05alcohol consumption23743675

eQTL of rs62197363 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:239028740SCLYENSG00000132330.12T>C7.8532e-1059210Cerebellum
Chr2:239028740SCLYENSG00000132330.12T>C1.0714e-859210Cortex
Chr2:239028740SCLYENSG00000132330.12T>C2.0850e-859210Cerebellar_Hemisphere
Chr2:239028740SCLYENSG00000132330.12T>C7.2091e-459210Anterior_cingulate_cortex

meQTL of rs62197363 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.07382120942112621.8216e-18

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 )
chr2238990205238990255E067-38485
chr2238990452238990751E067-37989
chr2239069431239069750E06740691
chr2239017313239017876E068-10864
chr2239069431239069750E06840691
chr2238989790238989866E069-38874
chr2238989941238990032E069-38708
chr2238990205238990255E069-38485
chr2239073976239074026E06945236
chr2238989247238989354E071-39386
chr2238989790238989866E071-38874
chr2238989941238990032E071-38708
chr2238990205238990255E071-38485
chr2238990452238990751E071-37989
chr2239007116239007529E071-21211
chr2239017176239017226E071-11514
chr2239017313239017876E071-10864
chr2239069431239069750E07140691
chr2238989790238989866E072-38874
chr2238989941238990032E072-38708
chr2238990205238990255E072-38485
chr2238990452238990751E072-37989
chr2239014417239014467E072-14273
chr2239014951239015001E072-13739
chr2239069431239069750E07240691
chr2239014951239015001E073-13739
chr2238989790238989866E074-38874
chr2238989941238990032E074-38708
chr2238990452238990751E074-37989
chr2239017313239017876E074-10864
chr2239069431239069750E07440691
chr2238994008238994058E081-34682
chr2238994372238994803E081-33937
chr2238993565238993671E082-35069
chr2238994008238994058E082-34682









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2239067442239068122E06738702
chr2239072293239072895E06743553
chr2239072293239072895E06843553
chr2239072293239072895E06943553
chr2239067337239067425E07038597
chr2239067442239068122E07038702
chr2239072293239072895E07043553
chr2239072293239072895E07243553
chr2239072293239072895E07343553
chr2239067337239067425E08238597
chr2239067442239068122E08238702
chr2239072293239072895E08243553