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

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Locus annotations

Locus 270

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
alpha-1-antichymotrypsin complex cis Discovery rs6575449 14:95,097,303 C/T 0.19 995 -0.432 0.054 1.9×10-15 -1.080 3.3×10-15 1.7×10-13
alpha-1-antichymotrypsin complex cis Replication rs17753556 14:95,095,434 C/A 0.12 337 -0.177 0.116 0.128 -1.020 0.485 0.347
a1-Antichymotrypsin cis Discovery rs6575449 14:95,097,303 C/T 0.19 995 -0.377 0.053 3.2×10-12 -1.040 4.3×10-12 1.5×10-11
a1-Antichymotrypsin cis Replication rs8023057 14:95,097,556 A/G 0.12 337 -0.348 0.113 0.002 -1.050 0.002 0.002

 

Regional association plots

alpha-1-antichymotrypsin complex

Download the association data used to generate this plot

Alpha-1-antichymotrypsin (a1-Antichymotrypsin)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

alpha-1-antichymotrypsin complex

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

Alpha-1-antichymotrypsin (a1-Antichymotrypsin)

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

alpha-1-antichymotrypsin complex

Target (abbrv.) alpha-1-antichymotrypsin complex
Target (full name) alpha-1-antichymotrypsin complex
Somalogic ID (Sequence ID) SL018548 (4153-11_2)
Entrez Gene Symbol SERPINA3
UniProt ID P01011
UniProt Comment
  • Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
Biomarker applications (based on IPA annotation)
  • unspecified application
Wiki Pathways
  • Folate Metabolism
  • Selenium Pathway
  • Vitamin B12 Metabolism

Alpha-1-antichymotrypsin (a1-Antichymotrypsin)

Target (abbrv.) a1-Antichymotrypsin
Target (full name) Alpha-1-antichymotrypsin
Somalogic ID (Sequence ID) SL000248 (2879-9_2)
Entrez Gene Symbol SERPINA3
UniProt ID P01011
UniProt Comment
  • Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
Biomarker applications (based on IPA annotation)
  • unspecified application
Wiki Pathways
  • Folate Metabolism
  • Selenium Pathway
  • Vitamin B12 Metabolism

All locus annotations are based on the sentinel SNP (rs6575449) and 6 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


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Genes hit or close-by
  • SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
  • SERPINA3
  • ADIPOR1P2 adiponectin receptor 1 pseudogene 2

 

Results from other genome-wide association studies

Trait P Study Source
cg10319640 (chr14:95090360) 2.1×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs