HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 33

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MIP-5 cis Discovery rs7221769 17:34,334,448 T/C 0.07 997 1.520 0.067 3.6×10-93 1.730 3.5×10-146 1.9×10-182
MIP-5 cis Replication rs78834229 17:34,330,411 G/A 0.06 337 1.054 0.121 1.2×10-16 1.490 3.2×10-18 9.9×10-18
HCC-1 cis Discovery rs7221769 17:34,334,448 T/C 0.07 997 0.581 0.080 6×10-13 1.150 1.5×10-11 2.1×10-11
HCC-1 cis Replication rs78834229 17:34,330,411 G/A 0.06 337 0.202 0.127 0.113 1.090 0.086 0.029

 

Regional association plots

 

Boxplots and histograms for top associations

C-C motif chemokine 15 (MIP-5)

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

C-C motif chemokine 14 (HCC-1)

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

C-C motif chemokine 15 (MIP-5)

Target (abbrv.) MIP-5
Target (full name) C-C motif chemokine 15
Somalogic ID (Sequence ID) SL003190 (3509-1_1)
Entrez Gene Symbol CCL15
UniProt ID Q16663
UniProt Comment
  • Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15.
Pathway Studio
  • CCR1 → STAT signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

C-C motif chemokine 14 (HCC-1)

Target (abbrv.) HCC-1
Target (full name) C-C motif chemokine 14
Somalogic ID (Sequence ID) SL003329 (2900-53_3)
Entrez Gene Symbol CCL14
UniProt ID Q16627
UniProt Comment
  • Has weak activities on human monocytes and acts via receptors that also recognize MIP-1 alpha. It induced intracellular Ca(2+) changes and enzyme release, but no chemotaxis, at concentrations of 100-1,000 nM, and was inactive on T-lymphocytes, neutrophils, and eosinophil leukocytes. Enhances the proliferation of CD34 myeloid progenitor cells. The processed form HCC-1(9-74) is a chemotactic factor that attracts monocytes eosinophils, and T-cells and is a ligand for CCR1, CCR3 and CCR5.
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 (rs7221769) and 43 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

 

Results from other genome-wide association studies

Trait P Study Source
cg10439431 (chr17:34345196) 6.5×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14916288 (chr17:34345160) 2.8×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CCL14 in liver 2.8×10-8 18462017 (PMID) GRASP2 eQTL
Gene expression of CCL15 in liver 4.4×10-8 18462017 (PMID) GRASP2 eQTL
cg23743114 (chr17:34328372) 9×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Q16663 protein abundance levels 2×10-5 22595970 (PMID) GRASP2 pQTL
cg03409272 (chr17:34330080) 6.1×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs