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WCMC

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

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Locus annotations

Locus 405

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CYTF cis Discovery rs6050091 20:24,873,553 G/A 0.02 997 1.072 0.155 7.5×10-12 1.430 5.9×10-7 0.489
CYTF cis Replication rs6050005 20:24,807,757 A/G 0.05 337 -0.103 0.162 0.527 -1.040 0.754 0.885

 

Regional association plots

 

Boxplots and histograms for top associations

Cystatin-F (CYTF)

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

Cystatin-F (CYTF)

Target (abbrv.) CYTF
Target (full name) Cystatin-F
Somalogic ID (Sequence ID) SL007049 (3302-58_1)
Entrez Gene Symbol CST7
UniProt ID O76096
UniProt Comment
  • Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system.

All locus annotations are based on the sentinel SNP (rs6050091) and 59 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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Potentially regulated genes
  • CST7 cystatin F (leukocystatin)
  • PYGB phosphorylase, glycogen; brain
  • ACSS1 acyl-CoA synthetase short-chain family member 1
eQTL genes
  • ABHD12 abhydrolase domain containing 12

 

Results from other genome-wide association studies


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No associations available.