Connecting genetic risk to disease endpoints through the human blood plasma proteome
ONLINE SUPPLEMENTARY INFORMATION
Locus 192
Top associations per target
| Target | cis/trans | Study | SNP | SNP location | Maj/min allele | MAF | N | βinv | seinv | Pinv | fclog | Plog | Praw |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HAI-1 | trans | Discovery | rs4494114 | 1:39,339,682 | T/C | 0.44 | 995 | -0.399 | 0.042 | 1.9×10-20 | -1.120 | 7.1×10-20 | 1.2×10-17 |
| HAI-1 | trans | Replication | rs12127091 | 1:39,339,449 | G/A | 0.39 | 337 | -0.327 | 0.058 | 3×10-8 | -1.130 | 7.2×10-8 | 1.1×10-8 |
Regional association plots
Kunitz-type protease inhibitor 1 (HAI-1)
Boxplots and histograms for top associations
All locus annotations are based on the sentinel SNP (rs4494114) and 58 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 |
|---|---|---|---|
| Serum ratio of (2-oleoylglycerophosphocholine*)/(dihomo-linoleate (20:2n6)) | 2.9×10-5 | 21886157 (PMID) | GRASP2 metabQTL |
| Fasting insulin | 6.1×10-5 | 17463246 (PMID) | GRASP2 nonQTL |
| Serum ratio of (glycodeoxycholate)/(stearoylcarnitine) | 1.2×10-4 | 21886157 (PMID) | GRASP2 metabQTL |
| HOMA-IR | 1.4×10-4 | 17463246 (PMID) | GRASP2 nonQTL |
Possible link between cis-variants and protein levels of SPINT1.
This locus harbours a replicated trans-pQTL to Kunitz-type protease inhibitor 1 (SPINT1).
The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.