HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 136

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Siglec-6 cis Discovery rs2005199 19:52,033,206 G/A 0.05 996 1.102 0.095 5.1×10-29 1.370 5.2×10-13 0.948
Siglec-6 cis Replication rs12461433 19:52,020,693 G/A 0.11 337 1.037 0.095 8.4×10-24 1.450 6.8×10-27 1.8×10-25

 

Regional association plots

Sialic acid-binding Ig-like lectin 6 (Siglec-6)

 

Boxplots and histograms for top associations

Sialic acid-binding Ig-like lectin 6 (Siglec-6)

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

Sialic acid-binding Ig-like lectin 6 (Siglec-6)

Target (abbrv.) Siglec-6
Target (full name) Sialic acid-binding Ig-like lectin 6
Somalogic ID (Sequence ID) SL005217 (2741-22_2)
Entrez Gene Symbol SIGLEC6
UniProt ID O43699
UniProt Comment
  • Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to 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.

All locus annotations are based on the sentinel SNP (rs2005199) and 27 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
  • SIGLEC12 sialic acid binding Ig-like lectin 12 (gene/pseudogene)
  • SIGLEC14 sialic acid binding Ig-like lectin 14
  • SIGLEC10 sialic acid binding Ig-like lectin 10
  • SIGLEC6 sialic acid binding Ig-like lectin 6
eQTL genes
  • ZNF175 zinc finger protein 175
  • LRRC4B leucine rich repeat containing 4B

 

Results from other genome-wide association studies

Trait P Study Source
Isopropanol:Xylose 2.4×10-5 21572414 (PMID) GRASP2 metabQTL
Rheumatoid arthritis 2.7×10-4 21452313 (PMID) GRASP2 nonQTL