HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 377

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TARC trans Discovery rs983545 3:16,959,652 G/A 0.35 995 0.320 0.045 2.3×10-12 1.090 7.6×10-12 1.4×10-8
TARC trans Replication rs9882937 3:16,959,532 G/A 0.33 337 0.093 0.067 0.168 1.050 0.245 0.642

 

Regional association plots

 

Boxplots and histograms for top associations

C-C motif chemokine 17 (TARC)

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

C-C motif chemokine 17 (TARC)

Target (abbrv.) TARC
Target (full name) C-C motif chemokine 17
Somalogic ID (Sequence ID) SL003196 (3519-3_2)
Entrez Gene Symbol CCL17
UniProt ID Q92583
UniProt Comment
  • Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4.
Pathway Interaction Database
  • IL4-mediated signaling events
Reactome
  • Chemokine receptors bind chemokines

All locus annotations are based on the sentinel SNP (rs983545) and 17 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
  • PLCL2 phospholipase C-like 2
eQTL genes
  • PLCL2 phospholipase C-like 2

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of PLCL2 in blood 2.7×10-13 21829388 (PMID) GRASP2 eQTL
Gene expression of PLCL2 in peripheral blood monocytes 4.7×10-10 20502693 (PMID) GRASP2 eQTL
Primary biliary cirrhosis 2×10-8 21399635 (PMID) GWAS Catalog via SNiPA
caproate (6:0) 8.6×10-6 24816252 (PMID) gwas.eu via SNiPA
Serum ratio of (ADpSGEGDFXAEGGGVR*)/(quinate) 9.1×10-6 21886157 (PMID) GRASP2 metabQTL
cg20942097 (chr3:16957585) 1×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Schizophrenia 6.4×10-5 25056061 (PMID) Supplemental file
Educational attainment, Education years 8.3×10-5 23722424 (PMID) Supplemental file
Years of education 8.3×10-5 23722424 (PMID) GRASP2 nonQTL