HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 169

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Chitotriosidase-1 cis Discovery rs4950937 1:203,182,292 G/A 0.27 996 0.486 0.046 1.4×10-24 1.400 4.8×10-25 1.9×10-12
Chitotriosidase-1 cis Replication rs4950937 1:203,182,292 G/A 0.24 337 0.576 0.080 4×10-12 1.240 8.1×10-10 4.7×10-5


Regional association plots


Boxplots and histograms for top associations


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


Target (abbrv.) Chitotriosidase-1
Target (full name) Chitotriosidase-1
Somalogic ID (Sequence ID) SL006029 (3600-2_3)
Entrez Gene Symbol CHIT1
UniProt ID Q13231
UniProt Comment
  • Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.
Biomarker applications (based on IPA annotation)
  • efficacy

All locus annotations are based on the sentinel SNP (rs4950937) and 8 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
  • CHIT1 chitinase 1 (chitotriosidase)
eQTL genes


Results from other genome-wide association studies

Trait P Study Source
Gene expression of ADORA1///MYBPH in blood 4.2×10-17 21829388 (PMID) GRASP2 eQTL
Serum ratio of (3-methylxanthine)/(theobromine) 1×10-4 21886157 (PMID) GRASP2 metabQTL
Serum ratio of (phenyllactate (PLA))/(quinate) 2.5×10-4 21886157 (PMID) GRASP2 metabQTL