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WCMC

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

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Locus annotations

Locus 301

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
complement factor H-related 5 cis Discovery rs6003 1:197,031,021 T/C 0.09 997 0.582 0.075 1.5×10-14 1.140 5.2×10-11 9.3×10-9
complement factor H-related 5 cis Replication rs1759007 1:197,027,606 G/A 0.13 337 0.278 0.090 0.002 1.090 0.003 0.004

 

Regional association plots

Complement factor H-related protein 5 (complement factor H-related 5)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Complement factor H-related protein 5 (complement factor H-related 5)

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

Complement factor H-related protein 5 (complement factor H-related 5)

Target (abbrv.) complement factor H-related 5
Target (full name) Complement factor H-related protein 5
Somalogic ID (Sequence ID) SL006830 (3666-17_4)
Entrez Gene Symbol CFHR5
UniProt ID Q9BXR6
UniProt Comment
  • Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.

All locus annotations are based on the sentinel SNP (rs6003) and 154 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
  • CFHR5 complement factor H-related 5
  • F13B coagulation factor XIII, B polypeptide
  • ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
  • RP11-32D17.4
  • ZBTB41 zinc finger and BTB domain containing 41
  • RP11-332L8.1
  • CRB1 crumbs family member 1, photoreceptor morphogenesis associated
Potentially regulated genes
  • CFHR2
  • CFHR1
  • CFHR1 complement factor H-related 1
  • CFHR2 complement factor H-related 2
  • ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
  • CFH complement factor H
  • CFH
  • CFHR4 complement factor H-related 4
  • CFHR3 complement factor H-related 3
  • CFHR3
eQTL genes
  • ZBTB41 zinc finger and BTB domain containing 41
  • CFHR3 complement factor H-related 3
  • CFHR1 complement factor H-related 1

 

Results from other genome-wide association studies

Trait P Study Source
cg13682187 (chr1:196946488) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Advanced age-related macular degeneration 1.9×10-34 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 5.9×10-19 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 5.5×10-18 23455636 (PMID) GRASP2 nonQTL
Methylation levels at chr1:195010245-195010295 [hg18 coord, probe cg04614339] in Frontal cortex 1.1×10-12 20485568 (PMID) GRASP2 meQTL
Macular degeneration 7.7×10-12 pha002869 (dbGaP) dbGaP via SNiPA
Methylation levels at chr1:195010245-195010295 [hg18 coord, probe cg04614339] in Temporal cortex 5.2×10-9 20485568 (PMID) GRASP2 meQTL
cg06952534 (chr1:196946252) 5.6×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Methylation levels at chr1:195054423-195054473 [hg18 coord, probe cg12687463] in Frontal cortex 2.8×10-8 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr1:195010245-195010295 [hg18 coord, probe cg04614339] in Caudal pons 3.1×10-8 20485568 (PMID) GRASP2 meQTL
Gene expression of SLC25A46 in peripheral blood monocytes 1.2×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of SYNCRIP in peripheral blood monocytes 1.7×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of OIP5 in peripheral blood monocytes 4.6×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of MLC1 in peripheral blood monocytes 4.9×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of ACHE in peripheral blood monocytes 7.9×10-6 20502693 (PMID) GRASP2 eQTL
Age-related macular degeneration 9.4×10-6 23326517 (PMID) GRASP2 nonQTL
Gene expression of WDR51B in peripheral blood monocytes 9.7×10-6 20502693 (PMID) GRASP2 eQTL
Age-related macular degeneration in ever smokers 2.4×10-5 23577725 (PMID) GRASP2 nonQTL
Serum ratio of (3-dehydrocarnitine*)/(alpha-ketoglutarate) 2.5×10-5 21886157 (PMID) GRASP2 metabQTL
Type 1 diabetes, combined control dataset, gender differentiated 3.6×10-4 17554300 (PMID) GRASP2 nonQTL