HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 124

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Siglec-9 cis Discovery rs1568003 19:51,633,660 C/T 0.40 995 0.530 0.043 4.4×10-32 2.860 8.1×10-32 2.7×10-35

 

Regional association plots

Sialic acid-binding Ig-like lectin 9 (Siglec-9)

 

Boxplots and histograms for top associations

Sialic acid-binding Ig-like lectin 9 (Siglec-9)

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

Sialic acid-binding Ig-like lectin 9 (Siglec-9)

Target (abbrv.) Siglec-9
Target (full name) Sialic acid-binding Ig-like lectin 9
Somalogic ID (Sequence ID) SL005219 (3007-7_2)
Entrez Gene Symbol SIGLEC9
UniProt ID Q9Y336
UniProt Comment
  • Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.
Pathway Studio
  • Natural Killer Cell Inhibitory Receptor Signaling

All locus annotations are based on the sentinel SNP (rs1568003) 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
  • SIGLEC9 sialic acid binding Ig-like lectin 9

 

Results from other genome-wide association studies

Trait P Study Source
cg14595786 (chr19:51626962) 2.4×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of OGFOD2 in peripheral blood monocytes 8.1×10-6 20502693 (PMID) GRASP2 eQTL