Connecting genetic risk to disease endpoints through the human blood plasma proteome
ONLINE SUPPLEMENTARY INFORMATION
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
Tryptase beta-2 (TPSB2)
Boxplots and histograms for top associations
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 |
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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 |
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| Potentially regulated genes | |
| eQTL genes |
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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 |