HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Home
Ideogram
Loci
Network view
Proteome annotation
Help
Locus annotations

Locus 217

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
EDAR cis Discovery rs6750059 2:109,611,097 T/C 0.25 996 -0.440 0.049 1.3×10-18 -1.160 5.3×10-16 5.4×10-7
EDAR cis Replication rs4676225 2:109,609,765 A/G 0.24 337 -0.214 0.057 2×10-4 -1.130 1.1×10-4 0.001

 

Regional association plots

Tumor necrosis factor receptor superfamily member EDAR (EDAR)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Tumor necrosis factor receptor superfamily member EDAR (EDAR)

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

Tumor necrosis factor receptor superfamily member EDAR (EDAR)

Target (abbrv.) EDAR
Target (full name) Tumor necrosis factor receptor superfamily member EDAR
Somalogic ID (Sequence ID) SL004872 (2977-7_2)
Entrez Gene Symbol EDAR
UniProt ID Q9UNE0
UniProt Comment
  • Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.
Wiki Pathways
  • Integrated Breast Cancer Pathway
Pathway Studio
  • Apoptosis
  • EctodysplasinR → AP-1 signaling
  • EctodysplasinR → LEF1 signaling
  • EctodysplasinR → NF-kB signaling

All locus annotations are based on the sentinel SNP (rs6750059) and 11 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
  • EDAR ectodysplasin A receptor
Potentially regulated genes
  • LIMS1 LIM and senescent cell antigen-like domains 1
  • EDAR ectodysplasin A receptor
eQTL genes
  • SULT1C3 sulfotransferase family, cytosolic, 1C, member 3

 

Results from other genome-wide association studies

Trait P Study Source
cg01124420 (chr2:109605494) 9.2×10-19 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Number of teeth 6.3×10-7 23704328 (PMID) GRASP2 nonQTL
Serum ratio of (2-hydroxypalmitate)/(dihomo-linolenate (20:3n3 or n6)) 3.8×10-4 21886157 (PMID) GRASP2 metabQTL