HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 188

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CLM6 trans Discovery rs10858881 12:89,891,474 T/G 0.22 996 -0.501 0.052 5.1×10-21 -1.110 4.4×10-19 3.1×10-12
CLM6 trans Replication rs10858897 12:89,922,032 C/A 0.30 337 -0.243 0.065 2.1×10-4 -1.070 0.001 0.013

 

Regional association plots

 

Boxplots and histograms for top associations

CMRF35-like molecule 6 (CLM6)

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

CMRF35-like molecule 6 (CLM6)

Target (abbrv.) CLM6
Target (full name) CMRF35-like molecule 6
Somalogic ID (Sequence ID) SL014270 (5066-134_3)
Entrez Gene Symbol CD300C
UniProt ID Q08708
UniProt Comment
  • Cell membrane

All locus annotations are based on the sentinel SNP (rs10858881) and 75 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg16606638 (chr12:89918245) 1.4×10-216 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg18474081 (chr12:89923517) 5.6×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of GALNT4 in peripheral blood monocytes 1.6×10-12 20502693 (PMID) GRASP2 eQTL
Gene expression of WDR51B in blood 2.2×10-7 21829388 (PMID) GRASP2 eQTL
Gene expression of ATP2B1 in blood 1.6×10-6 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of WDR51B [probe 3464936] in brain cortex 4.6×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of GALNT4 in CD4+ lymphocytes 4.9×10-6 20833654 (PMID) GRASP2 eQTL
Differential exon level expression of WDR51B [probe 3464935] in brain cortex 9.7×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of GALNT4 in liver 1.9×10-5 18462017 (PMID) GRASP2 eQTL
Systolic blood pressure 3.9×10-4 21909115 (PMID) Supplemental file
Systolic blood pressure (SBP) 3.9×10-4 21909115 (PMID) GRASP2 nonQTL