HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 307

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Elafin cis Discovery rs6032067 20:43,864,809 G/T 0.18 994 0.403 0.052 3.2×10-14 1.150 2.8×10-14 8.2×10-11
Elafin cis Replication rs2233896 20:43,850,400 C/A 0.16 337 0.377 0.096 1.1×10-4 1.210 2.6×10-4 0.038

 

Regional association plots

 

Boxplots and histograms for top associations

Elafin

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Elafin

Target (abbrv.) Elafin
Target (full name) Elafin
Somalogic ID (Sequence ID) SL004458 (4982-54_1)
Entrez Gene Symbol PI3
UniProt ID P19957
UniProt Comment
  • Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.

All locus annotations are based on the sentinel SNP (rs6032067) and 149 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
Potentially regulated genes
  • WFDC5 WAP four-disulfide core domain 5
  • PABPC1L poly(A) binding protein, cytoplasmic 1-like
  • SYS1 Sys1 golgi trafficking protein
  • DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2
  • RPL5P2 ribosomal protein L5 pseudogene 2
  • RP3-453C12.8
  • PI3 peptidase inhibitor 3, skin-derived
  • STK4 serine/threonine kinase 4
  • STK4
  • WFDC11 WAP four-disulfide core domain 11
  • WFDC2 WAP four-disulfide core domain 2
  • SPINT3 serine peptidase inhibitor, Kunitz type, 3
  • WFDC9 WAP four-disulfide core domain 9
  • SEMG2 semenogelin II
  • RPS2P7 ribosomal protein S2 pseudogene 7
  • WFDC13 WAP four-disulfide core domain 13
eQTL genes
  • SLPI secretory leukocyte peptidase inhibitor
  • KCNS1 potassium voltage-gated channel, modifier subfamily S, member 1
  • MATN4 matrilin 4
  • SYS1-DBNDD2 SYS1-DBNDD2 readthrough (NMD candidate)
  • DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2
  • WFDC5 WAP four-disulfide core domain 5
  • SEMG1 semenogelin I
  • RP3-453C12.8
  • PI3 peptidase inhibitor 3, skin-derived
  • WFDC12 WAP four-disulfide core domain 12

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of PI3 in blood 7.2×10-24 21829388 (PMID) GRASP2 eQTL
cg14609407 (chr20:43883196) 4.8×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg07668993 (chr20:43883283) 3.7×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of PI3 (probeID ILMN_1693192) in whole blood 3.4×10-12 22692066 (PMID) GRASP2 eQTL
cg02016723 (chr20:43743487) 1.9×10-11 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg09628707 (chr20:43729386) 2.1×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SEMG1 in blood 1.9×10-9 21829388 (PMID) GRASP2 eQTL
Methylation levels at chr20:43269475-43269525 [hg18 coord, probe cg04545516] in Frontal cortex 6.5×10-9 20485568 (PMID) GRASP2 meQTL
cg23889010 (chr20:43883014) 7.9×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of ERG in peripheral blood monocytes 5.8×10-6 20502693 (PMID) GRASP2 eQTL
cg04545516 (chr20:43836085) 9.2×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of KCNS1 in blood 1.6×10-4 21829388 (PMID) GRASP2 eQTL