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WCMC

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

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Locus annotations

Locus 25

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GCP-2 cis Discovery rs16850073 4:74,703,999 C/T 0.38 984 0.888 0.038 9.7×10-98 1.350 7.7×10-78 7×10-11
GCP-2 cis Replication rs16850073 4:74,703,999 G/A 0.23 337 0.606 0.060 4.6×10-21 1.430 1.2×10-17 0.241

 

Regional association plots

 

Boxplots and histograms for top associations

C-X-C motif chemokine 6 (GCP-2)

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

C-X-C motif chemokine 6 (GCP-2)

Target (abbrv.) GCP-2
Target (full name) C-X-C motif chemokine 6
Somalogic ID (Sequence ID) SL003172 (3495-15_2)
Entrez Gene Symbol CXCL6
UniProt ID P80162
UniProt Comment
  • Chemotactic for neutrophil granulocytes. Signals through binding and activation of its receptors (CXCR1 and CXCR2). In addition to its chemotactic and angiogenic properties, it has strong antibacterial activity against Gram-positive and Gram-negative bacteria (90-fold-higher when compared to CXCL5 and CXCL7).
Biomarker applications (based on IPA annotation)
  • unspecified application
Reactome
  • Chemokine receptors bind chemokines
  • G alpha (i) signalling events
Pathway Studio
  • IL8R → CREB/EGR signaling

All locus annotations are based on the sentinel SNP (rs16850073) and 1 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
  • CXCL6 chemokine (C-X-C motif) ligand 6
eQTL genes
  • CXCL6 chemokine (C-X-C motif) ligand 6
  • PF4V1 platelet factor 4 variant 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of PF4V1 in peripheral blood monocytes 1.3×10-17 20502693 (PMID) GRASP2 eQTL