HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 349

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DC-SIGN cis Discovery rs8106657 19:7,788,091 T/C 0.26 995 -0.362 0.049 4.2×10-13 -1.130 1.8×10-12 5×10-10

 

Regional association plots

 

Boxplots and histograms for top associations

CD209 antigen (DC-SIGN)

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

CD209 antigen (DC-SIGN)

Target (abbrv.) DC-SIGN
Target (full name) CD209 antigen
Somalogic ID (Sequence ID) SL005157 (3029-52_2)
Entrez Gene Symbol CD209
UniProt ID Q9NNX6
UniProt Comment
  • Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response.
Reactome
  • CD209 (DC-SIGN) signaling
Pathway Studio
  • DC-SIGN (CD209) Signaling

All locus annotations are based on the sentinel SNP (rs8106657) and 10 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
  • CLEC4G C-type lectin domain family 4, member G
Potentially regulated genes
  • C19orf45 chromosome 19 open reading frame 45
  • CCL25 chemokine (C-C motif) ligand 25
eQTL genes
  • TGFBR3L transforming growth factor, beta receptor III-like
  • XAB2 XPA binding protein 2
  • FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
  • MCEMP1 mast cell-expressed membrane protein 1
  • CLEC4G C-type lectin domain family 4, member G
  • CD209 CD209 molecule

 

Results from other genome-wide association studies

Trait P Study Source
cg11056604 (chr19:7797124) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12105671 (chr19:7852231) 6.7×10-246 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24889914 (chr19:7852228) 6.9×10-125 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg19001261 (chr19:7797028) 5.8×10-119 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg26004707 (chr19:7852144) 1.4×10-107 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg04412303 (chr19:7813939) 4×10-100 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg05842480 (chr19:7795168) 2.7×10-78 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CLEC4G in peripheral blood monocytes 2.2×10-60 20502693 (PMID) GRASP2 eQTL
cg11445324 (chr19:7751037) 9.4×10-57 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg08409173 (chr19:7853520) 1.8×10-54 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg26980000 (chr19:7747769) 3.9×10-37 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg18515510 (chr19:7831872) 6.9×10-34 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg19283928 (chr19:7794271) 5.4×10-27 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg05626117 (chr19:7798303) 1.2×10-26 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24699296 (chr19:7747244) 1.3×10-26 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24418790 (chr19:7799551) 1.3×10-24 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg00187535 (chr19:7747004) 4.8×10-23 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CLEC4G in blood 7.7×10-22 21829388 (PMID) GRASP2 eQTL
cg00630794 (chr19:7746933) 4.4×10-21 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg01895740 (chr19:7852715) 1.5×10-19 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CD209 in peripheral blood monocytes 9.1×10-18 20502693 (PMID) GRASP2 eQTL
cg05641903 (chr19:7767608) 1.3×10-17 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg17661462 (chr19:7741814) 4.7×10-16 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg01452452 (chr19:7808023) 4.4×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12147572 (chr19:7827768) 3.9×10-12 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg09310891 (chr19:7854427) 9.4×10-12 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg01403948 (chr19:7661641) 4.1×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of FCER2 in peripheral blood monocytes 4.4×10-8 20502693 (PMID) GRASP2 eQTL
cg04770751 (chr19:7701638) 1×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg27546241 (chr19:7701777) 1.7×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg26689507 (chr19:7747737) 1.7×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg02961707 (chr19:7927950) 8.9×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg18994062 (chr19:7853353) 2.1×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg18732541 (chr19:7741578) 2.7×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24759919 (chr19:7702470) 1×10-4 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CD209 (ENSG00000090659) in dendritic cells 2.7×10-4 22233810 (PMID) GRASP2 eQTL
Gene expression of CD209///AC008763.9 in blood 4×10-4 21829388 (PMID) GRASP2 eQTL