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

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Locus annotations

Locus 369

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
LD78-beta cis Discovery rs16971895 17:34,386,399 G/A 0.04 995 0.776 0.108 1.2×10-12 1.100 5.9×10-8 0.003
LD78-beta cis Replication rs16971895 17:34,386,399 G/A 0.08 337 0.365 0.110 0.001 1.090 4.2×10-4 0.001

 

Regional association plots

C-C motif chemokine 3-like 1 (LD78-beta)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

C-C motif chemokine 3-like 1 (LD78-beta)

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

C-C motif chemokine 3-like 1 (LD78-beta)

Target (abbrv.) LD78-beta
Target (full name) C-C motif chemokine 3-like 1
Somalogic ID (Sequence ID) SL004355 (2783-18_2)
Entrez Gene Symbol CCL3L1
UniProt ID P16619
UniProt Comment
  • Chemotactic for lymphocytes and monocytes. Is a ligand for CCR1, CCR3 and CCR5. Is an inhibitor of HIV-1-infection. The processed form LD78-beta(3-70) shows a 20-fold to 30-fold higher chemotactic activity and is a very potent inhibitor of HIV-1-infection. LD78-beta(3-70) is also a ligand for CCR1, CCR3 and CCR5.
Reactome
  • Chemokine receptors bind chemokines

All locus annotations are based on the sentinel SNP (rs16971895) and 4 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
  • CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)

 

Results from other genome-wide association studies


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No associations available.