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WCMC

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

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Locus annotations

Locus 258

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
RELT cis Discovery rs7119167 11:73,228,685 T/C 0.20 993 0.404 0.049 5.7×10-16 1.080 4.4×10-15 1.8×10-13
RELT cis Replication rs725103 11:73,032,471 A/G 0.17 337 0.164 0.061 0.007 1.050 0.013 0.028

 

Regional association plots

Tumor necrosis factor receptor superfamily member 19L (RELT)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Tumor necrosis factor receptor superfamily member 19L (RELT)

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

Tumor necrosis factor receptor superfamily member 19L (RELT)

Target (abbrv.) RELT
Target (full name) Tumor necrosis factor receptor superfamily member 19L
Somalogic ID (Sequence ID) SL005213 (5115-31_3)
Entrez Gene Symbol RELT
UniProt ID Q969Z4
UniProt Comment
  • Mediates activation of NF-kappa-B. May play a role in T-cell activation.

All locus annotations are based on the sentinel SNP (rs7119167) and 31 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
Potentially regulated genes
eQTL genes
  • FAM168A family with sequence similarity 168, member A
  • RELT RELT tumor necrosis factor receptor
  • ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17
  • RP11-809N8.4

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ARHGEF17 in peripheral blood monocytes 2.8×10-6 20502693 (PMID) GRASP2 eQTL
Differential exon level expression of KIAA0280 [probe 3381551] in brain cortex 7×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of ARHGEF17 in blood 1.5×10-5 21829388 (PMID) GRASP2 eQTL
Gene expression of [probe 2630601 centered at chr11:72789665] in blood 3.2×10-4 21829388 (PMID) GRASP2 eQTL