HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 437

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
EMR2 cis Discovery rs7260110 19:14,501,544 A/G 0.36 996 0.297 0.045 5.2×10-11 1.070 6.3×10-10 1.9×10-5

 

Regional association plots

EGF-like module-containing mucin-like hormone receptor-like 2 (EMR2)

 

Boxplots and histograms for top associations

EGF-like module-containing mucin-like hormone receptor-like 2 (EMR2)

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

EGF-like module-containing mucin-like hormone receptor-like 2 (EMR2)

Target (abbrv.) EMR2
Target (full name) EGF-like module-containing mucin-like hormone receptor-like 2
Somalogic ID (Sequence ID) SL008822 (4546-27_3)
Entrez Gene Symbol EMR2
UniProt ID Q9UHX3
UniProt Comment
  • Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins.

All locus annotations are based on the sentinel SNP (rs7260110) and 2 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
  • ADGRE5 adhesion G protein-coupled receptor E5

 

Results from other genome-wide association studies

Trait P Study Source
cg08239297 (chr19:14516569) 9.5×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs