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

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Locus annotations

Locus 92

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
HCC-1 cis Discovery rs16971802 17:34,311,387 T/C 0.06 997 -1.151 0.082 9.6×10-41 -1.350 5.2×10-45 2×10-32
HCC-1 cis Replication rs16971802 17:34,311,387 A/G 0.05 337 -0.616 0.141 1.6×10-5 -1.290 1.9×10-5 1.1×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

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 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 (rs16971802) 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


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Genes hit or close-by

 

Results from other genome-wide association studies


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No associations available.