HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 39

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 rs7250849 19:52,158,316 G/T 0.12 994 -1.230 0.058 4.3×10-82 -2.110 8.8×10-91 4.7×10-91
SIG14 cis Replication rs7250849 19:52,158,316 C/A 0.11 337 -0.579 0.097 6×10-9 -1.510 4.7×10-7 2×10-8

 

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
Replication 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 (rs7250849) 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
  • SIGLEC5 sialic acid binding Ig-like lectin 5
  • RPL7P51 ribosomal protein L7 pseudogene 51

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of SIGLEC5 in peripheral blood monocytes 2.3×10-9 20502693 (PMID) GRASP2 eQTL
SIGLEC5 gene expression 5.5×10-6 21798870 (PMID) GRASP2 eQTL
Inflammatory bowel disease 4.3×10-4 Supplemental file