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

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Locus annotations

Locus 216

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 rs17676662 17:34,262,254 A/G 0.13 995 -0.557 0.062 1.2×10-18 -1.150 5×10-20 8.6×10-16
HCC-1 cis Replication rs9901969 17:34,266,028 A/G 0.10 337 -0.086 0.107 0.423 -1.030 0.473 0.88

 

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 (rs17676662).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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Genes hit or close-by
  • RDM1 RAD52 motif containing 1
  • LYZL6 lysozyme-like 6

 

Results from other genome-wide association studies


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No associations available.