HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

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

No associations available.