HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 442

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
sTie-1 trans Discovery rs7857390 9:136,128,546 G/A 0.38 996 -0.295 0.045 5.8×10-11 -1.050 6.3×10-11 1.7×10-10
sTie-1 trans Replication rs7857390 9:136,128,546 G/A 0.34 337 -0.329 0.066 1×10-6 -1.080 4×10-6 1.5×10-5

 

Regional association plots

Tyrosine-protein kinase receptor Tie-1, soluble (sTie-1)

 

Boxplots and histograms for top associations

Tyrosine-protein kinase receptor Tie-1, soluble (sTie-1)

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

Tyrosine-protein kinase receptor Tie-1, soluble (sTie-1)

Target (abbrv.) sTie-1
Target (full name) Tyrosine-protein kinase receptor Tie-1, soluble
Somalogic ID (Sequence ID) SL003199 (2844-53_2)
Entrez Gene Symbol TIE1
UniProt ID P35590
UniProt Comment
  • Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis.

All locus annotations are based on the sentinel SNP (rs7857390) and 15 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
  • ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)