HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 203

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Endothelin-converting enzyme 1 trans Discovery rs4683702 3:142,617,138 T/G 0.37 995 0.397 0.043 2×10-19 1.080 1×10-18 1.2×10-17
Endothelin-converting enzyme 1 trans Replication rs4683702 3:142,617,138 A/C 0.16 337 0.355 0.089 8.3×10-5 1.090 1.2×10-4 5.2×10-5


Regional association plots


Boxplots and histograms for top associations

Endothelin-converting enzyme 1

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

Endothelin-converting enzyme 1

Target (abbrv.) Endothelin-converting enzyme 1
Target (full name) Endothelin-converting enzyme 1
Somalogic ID (Sequence ID) SL004060 (3611-70_4)
Entrez Gene Symbol ECE1
UniProt ID P42892
UniProt Comment
  • Converts big endothelin-1 to endothelin-1.
Wiki Pathways
  • SIDS Susceptibility Pathways

All locus annotations are based on the sentinel SNP (rs4683702) and 12 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
  • PCOLCE2 procollagen C-endopeptidase enhancer 2
Potentially regulated genes
eQTL genes
  • PCOLCE2 procollagen C-endopeptidase enhancer 2


Results from other genome-wide association studies

Trait P Study Source
cg22826874 (chr3:142608242) 3.1×10-38 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg21129615 (chr3:142607823) 5.3×10-27 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg01537713 (chr3:142606794) 5.1×10-17 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
1-oleoylglycerophosphoethanolamine 2.4×10-6 24816252 (PMID) gwas.eu via SNiPA
Gene expression of PCOLCE2 in liver 3.4×10-6 18462017 (PMID) GRASP2 eQTL
Height 5.3×10-6 25282103 (PMID) Supplemental file
Total cholesterol 4.7×10-4 20686565 (PMID) GRASP2 nonQTL

Possible link between cis-variants and protein levels of ECE1 and PCOLEC2 expression.

This locus harbours a replicated trans-pQTL to Endothelin-converting enzyme 1 (ECE1). ECE1 is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. This variant may impact PCOLCE2 (cis-eQTL). PCOLEC2 binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1. Possible common theme is proteolysis.

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.