HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 30

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
HCC-4 cis Discovery rs33995560 17:34,303,771 T/C 0.08 997 -1.393 0.060 1.9×10-95 -1.780 1.3×10-129 1.2×10-92
HCC-4 cis Replication rs33995560 17:34,303,771 A/G 0.07 337 -0.790 0.131 4.9×10-9 -1.690 7.1×10-13 0.025

 

Regional association plots

 

Boxplots and histograms for top associations

C-C motif chemokine 16 (HCC-4)

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

C-C motif chemokine 16 (HCC-4)

Target (abbrv.) HCC-4
Target (full name) C-C motif chemokine 16
Somalogic ID (Sequence ID) SL003300 (4913-78_1)
Entrez Gene Symbol CCL16
UniProt ID O15467
UniProt Comment
  • Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES.
Reactome
  • Chemokine receptors bind chemokines
  • G alpha (i) signalling events
Pathway Studio
  • CCR1 → STAT signaling
  • CCR2/5 → STAT signaling
  • CCR5 → TP53 signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

All locus annotations are based on the sentinel SNP (rs33995560) and 6 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

 

Results from other genome-wide association studies

Trait P Study Source
"Gene expression of CCL16 [transcript NM_004590, probe A_23_P207582] in liver" 2.3×10-11 21637794 (PMID) GRASP2 eQTL
O15467 protein abundance levels 2.5×10-11 22595970 (PMID) GRASP2 pQTL
cg22254135 (chr17:34309105) 9.7×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CCL16 in liver 2.8×10-6 18462017 (PMID) GRASP2 eQTL
cg22647738 (chr17:34304438) 1.8×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Alzheimer's disease 3.6×10-4 20061627 (PMID) GRASP2 nonQTL