HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 147

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TPSB2 cis Discovery rs4984778 16:1,297,516 G/C 0.28 996 0.517 0.046 2.7×10-27 1.330 7×10-32 2.9×10-24
TPSB2 cis Replication rs7198064 16:1,272,472 A/G 0.22 337 0.630 0.081 8.3×10-14 1.450 4.8×10-15 1.4×10-13


Regional association plots


Boxplots and histograms for top associations

Tryptase beta-2 (TPSB2)

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

Tryptase beta-2 (TPSB2)

Target (abbrv.) TPSB2
Target (full name) Tryptase beta-2
Somalogic ID (Sequence ID) SL010617 (3403-1_2)
Entrez Gene Symbol TPSB2
UniProt ID P20231
UniProt Comment
  • Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity.

All locus annotations are based on the sentinel SNP (rs4984778) and 22 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
  • CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
  • TPSD1 tryptase delta 1
eQTL genes


Results from other genome-wide association studies

Trait P Study Source
Gene expression of TPSAB1 in peripheral blood monocytes 2.2×10-35 20502693 (PMID) GRASP2 eQTL
Gene expression of TPSG1 in normal prepouch ileum 8.4×10-11 23474282 (PMID) GRASP2 eQTL
cg02144332 (chr16:1307704) 1.5×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs