HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 211

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CYTN cis Discovery rs2070856 20:23,731,412 G/A 0.13 997 -0.555 0.061 5.6×10-19 -1.290 9.5×10-17 0.548
CYTN cis Replication rs2070856 20:23,731,412 G/A 0.19 337 -0.259 0.092 0.005 -1.100 0.047 0.681

 

Regional association plots

 

Boxplots and histograms for top associations

Cystatin-SN (CYTN)

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

Cystatin-SN (CYTN)

Target (abbrv.) CYTN
Target (full name) Cystatin-SN
Somalogic ID (Sequence ID) SL010456 (5459-33_3)
Entrez Gene Symbol CST1
UniProt ID P01037
UniProt Comment
  • Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.

All locus annotations are based on the sentinel SNP (rs2070856).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
eQTL genes

 

Results from other genome-wide association studies

No associations available.