HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 406

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ESAM cis Discovery rs11219769 11:124,620,147 G/T 0.25 995 -0.335 0.048 7.8×10-12 -1.040 4.4×10-11 2.4×10-9
ESAM cis Replication rs12541 11:124,623,492 A/G 0.25 337 -0.289 0.058 1.1×10-6 -1.080 1.7×10-5 0.004

 

Regional association plots

Endothelial cell-selective adhesion molecule (ESAM)

 

Boxplots and histograms for top associations

Endothelial cell-selective adhesion molecule (ESAM)

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

Endothelial cell-selective adhesion molecule (ESAM)

Target (abbrv.) ESAM
Target (full name) Endothelial cell-selective adhesion molecule
Somalogic ID (Sequence ID) SL005160 (2981-9_3)
Entrez Gene Symbol ESAM
UniProt ID Q96AP7
UniProt Comment
  • Can mediate aggregation most likely through a homophilic molecular interaction.
Reactome
  • Cell surface interactions at the vascular wall

All locus annotations are based on the sentinel SNP (rs11219769) and 1 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
  • RP11-677M14.2
  • VSIG2 V-set and immunoglobulin domain containing 2
  • NRGN neurogranin (protein kinase C substrate, RC3)
  • ESAM endothelial cell adhesion molecule
eQTL genes
  • VSIG2 V-set and immunoglobulin domain containing 2
  • MSANTD2 Myb/SANT-like DNA-binding domain containing 2

 

Results from other genome-wide association studies

Trait P Study Source
Schizophrenia 1.6×10-8 25056061 (PMID) Supplemental file
RNP with Anti-Sm autoantibody status in systemic lupus erythematosus (SLE) patients 2.1×10-4 20659327 (PMID) GRASP2 nonQTL