HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 70

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 rs6138458 20:24,973,769 G/A 0.23 997 -0.763 0.047 7.6×10-53 -1.230 3.2×10-19 0.002
CYTF cis Replication rs6707 20:24,944,166 G/A 0.23 337 -0.612 0.079 1.2×10-13 -1.280 1.4×10-4 0.683

 

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 (rs6138458) and 60 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

Genes hit or close-by
Potentially regulated genes
eQTL genes
  • APMAP adipocyte plasma membrane associated protein
  • CST7 cystatin F (leukocystatin)
  • NINL ninein-like

 

Results from other genome-wide association studies

Trait P Study Source
cg13705949 (chr20:24895837) 5×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg05828781 (chr20:24975766) 1.9×10-11 10.1101/033084 (DOI) BIOS QTL cis-meQTLs