HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 202

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Ck-b-8-1 cis Discovery rs1003645 17:34,340,284 T/C 0.22 995 -0.472 0.051 1.6×10-19 -1.150 2.3×10-20 3.7×10-16
Ck-b-8-1 cis Replication rs1003645 17:34,340,284 A/G 0.32 337 -0.325 0.062 3.1×10-7 -1.130 3.4×10-7 3.4×10-6

 

Regional association plots

 

Boxplots and histograms for top associations

Ck-beta-8-1 (Ck-b-8-1)

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

Ck-beta-8-1 (Ck-b-8-1)

Target (abbrv.) Ck-b-8-1
Target (full name) Ck-beta-8-1
Somalogic ID (Sequence ID) SL003301 (3028-36_2)
Entrez Gene Symbol CCL23
UniProt ID P55773
UniProt Comment
  • Shows chemotactic activity for monocytes, resting T-lymphocytes, and neutrophils, but not for activated lymphocytes. Inhibits proliferation of myeloid progenitor cells in colony formation assays. This protein can bind heparin. Binds CCR1. CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99) are more potent chemoattractants than the small-inducible cytokine A23.
Reactome
  • Formyl peptide receptors bind formyl peptides and many other ligands
  • G alpha (i) signalling events
  • G alpha (q) signalling events
Pathway Studio
  • CCR1 → STAT signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

All locus annotations are based on the sentinel SNP (rs1003645) and 26 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
  • CCL14 chemokine (C-C motif) ligand 14
  • CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate)
  • CCL23 chemokine (C-C motif) ligand 23

 

Results from other genome-wide association studies

Trait P Study Source
cg07480367 (chr17:34314535) 3.2×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of GBE1 in peripheral blood monocytes 8×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of NUP133 in peripheral blood monocytes 3.2×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of YTHDC2 in peripheral blood monocytes 5.5×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of SUV420H1 in peripheral blood monocytes 6.2×10-6 20502693 (PMID) GRASP2 eQTL