HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 20

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 rs12141375 1:203,181,362 C/A 0.20 996 -0.990 0.039 9.3×10-108 -2.090 1.6×10-135 1×10-33
Chitotriosidase-1 cis Replication rs12141375 1:203,181,362 C/A 0.34 337 -0.880 0.064 3.1×10-34 -1.390 3.8×10-26 6.1×10-12


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 (rs12141375) and 13 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
  • ADORA1 adenosine A1 receptor
  • CHIT1 chitinase 1 (chitotriosidase)


Results from other genome-wide association studies

Trait P Study Source
cg17725472 (chr1:203198781) 2.8×10-65 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg23683497 (chr1:203192493) 1.3×10-31 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Q13231 protein abundance levels 3.2×10-8 22595970 (PMID) GRASP2 pQTL
Alzheimer's disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms v. controls) 3.9×10-4 22005930 (PMID) GRASP2 nonQTL