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WCMC

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

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Locus annotations

Locus 84

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Siglec-6 cis Discovery rs2124910 19:52,025,247 C/T 0.41 993 0.653 0.043 2.7×10-46 1.150 9.7×10-12 0.836
Siglec-6 cis Replication rs2290660 19:52,031,304 A/C 0.42 337 0.660 0.055 10×10-28 1.240 4.1×10-26 1.1×10-20

 

Regional association plots

Sialic acid-binding Ig-like lectin 6 (Siglec-6)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Sialic acid-binding Ig-like lectin 6 (Siglec-6)

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

Sialic acid-binding Ig-like lectin 6 (Siglec-6)

Target (abbrv.) Siglec-6
Target (full name) Sialic acid-binding Ig-like lectin 6
Somalogic ID (Sequence ID) SL005217 (2741-22_2)
Entrez Gene Symbol SIGLEC6
UniProt ID O43699
UniProt Comment
  • Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.

All locus annotations are based on the sentinel SNP (rs2124910) and 20 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
  • SIGLEC6 sialic acid binding Ig-like lectin 6
eQTL genes
  • SIGLEC12 sialic acid binding Ig-like lectin 12 (gene/pseudogene)
  • ZNF175 zinc finger protein 175
  • SIGLEC5
  • SIGLEC5 sialic acid binding Ig-like lectin 5
  • SIGLEC6 sialic acid binding Ig-like lectin 6

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of SIGLEC12 in peripheral blood monocytes 1×10-80 20502693 (PMID) GRASP2 eQTL
Methylation levels at chr19:56726782-56726832 [hg18 coord, probe cg16293105] in Cerebellum 4.4×10-20 20485568 (PMID) GRASP2 meQTL
Gene expression of SIGLEC12 in normal prepouch ileum 1.1×10-14 23474282 (PMID) GRASP2 eQTL
Methylation levels at chr19:56726782-56726832 [hg18 coord, probe cg16293105] in Frontal cortex 2.8×10-14 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr19:56726782-56726832 [hg18 coord, probe cg16293105] in Caudal pons 4.9×10-14 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr19:56726782-56726832 [hg18 coord, probe cg16293105] in Temporal cortex 2.3×10-12 20485568 (PMID) GRASP2 meQTL
Methylation QTL for probe cg18986165 7.4×10-6 21251332 (PMID) GRASP2 meQTL
Gene expression of SIGLEC12 in blood 4.8×10-5 21829388 (PMID) GRASP2 eQTL
Gene expression of SIGLEC12 [probe 3869078] in peripheral blood mononuclear cells 6.4×10-5 19222302 (PMID) GRASP2 eQTL