HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 163

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
sL-Selectin cis Discovery rs12938 1:169,660,781 A/G 0.28 994 -0.487 0.046 4.5×10-25 -1.090 8.7×10-25 7.9×10-25
sL-Selectin cis Replication rs4987354 1:169,666,871 C/A 0.27 337 -0.326 0.075 1.7×10-5 -1.080 6.6×10-5 0.003

 

Regional association plots

 

Boxplots and histograms for top associations

L-Selectin (sL-Selectin)

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

L-Selectin (sL-Selectin)

Target (abbrv.) sL-Selectin
Target (full name) L-Selectin
Somalogic ID (Sequence ID) SL002823 (4831-4_2)
Entrez Gene Symbol SELL
UniProt ID P14151
UniProt Comment
  • Cell surface adhesion protein. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia.
Biomarker applications (based on IPA annotation)
  • efficacy
Reactome
  • Cell surface interactions at the vascular wall
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • Leukocyte Adhesion to Endothelial Cell

All locus annotations are based on the sentinel SNP (rs12938) and 4 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
  • C1orf112 chromosome 1 open reading frame 112
  • SELL selectin L
eQTL genes
  • RN7SL333P RNA, 7SL, cytoplasmic 333, pseudogene
  • C1orf112 chromosome 1 open reading frame 112
  • SELL selectin L

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of SELL in peripheral blood monocytes 1×10-29 20502693 (PMID) GRASP2 eQTL
cg13920312 (chr1:169660195) 2×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Hemoglobin a, glycosylated 6.3×10-5 pha002881 (dbGaP) dbGaP via SNiPA
cg05343289 (chr1:169600680) 7.1×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs