HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 399

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CYTD cis Discovery rs4585101 20:23,847,254 C/T 0.22 997 -0.357 0.051 5.9×10-12 -1.190 4.8×10-12 5.4×10-10
CYTD cis Replication rs6083298 20:23,823,856 G/A 0.21 337 -0.135 0.080 0.092 -1.090 0.12 0.352

 

Regional association plots

 

Boxplots and histograms for top associations

Cystatin-D (CYTD)

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

Cystatin-D (CYTD)

Target (abbrv.) CYTD
Target (full name) Cystatin-D
Somalogic ID (Sequence ID) SL008382 (3803-10_2)
Entrez Gene Symbol CST5
UniProt ID P28325
UniProt Comment
  • Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.
Wiki Pathways
  • Endochondral Ossification

All locus annotations are based on the sentinel SNP (rs4585101) and 36 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

 

Results from other genome-wide association studies

No associations available.