HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 219

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SIG14 cis Discovery rs6509558 19:52,127,949 C/T 0.31 994 0.419 0.047 2.2×10-18 1.250 1.7×10-15 8.3×10-20

 

Regional association plots

Sialic acid-binding Ig-like lectin 14 (SIG14)

 

Boxplots and histograms for top associations

Sialic acid-binding Ig-like lectin 14 (SIG14)

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

Sialic acid-binding Ig-like lectin 14 (SIG14)

Target (abbrv.) SIG14
Target (full name) Sialic acid-binding Ig-like lectin 14
Somalogic ID (Sequence ID) SL014292 (5125-6_3)
Entrez Gene Symbol SIGLEC14
UniProt ID Q08ET2
UniProt Comment
  • Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors.
Reactome
  • DAP12 interactions

All locus annotations are based on the sentinel SNP (rs6509558) and 3 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
eQTL genes
  • SIGLEC14 sialic acid binding Ig-like lectin 14

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CD33 in Fibroblasts 3.9×10-7 19644074 (PMID) GRASP2 eQTL
cg12530021 (chr19:52004606) 2.4×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs