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

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Locus annotations

Locus 295

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MICB cis Discovery rs2284178 6:31,432,125 C/T 0.47 993 0.344 0.044 1.1×10-14 1.130 1.9×10-8 0.007
MICB cis Replication rs2284178 6:31,432,125 A/G 0.47 337 -0.267 0.060 1.2×10-5 -1.130 1.5×10-5 0.015

 

Regional association plots

MHC class I polypeptide-related sequence B (MICB)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

MHC class I polypeptide-related sequence B (MICB)

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

MHC class I polypeptide-related sequence B (MICB)

Target (abbrv.) MICB
Target (full name) MHC class I polypeptide-related sequence B
Somalogic ID (Sequence ID) SL005200 (5102-55_3)
Entrez Gene Symbol MICB
UniProt ID Q29980
UniProt Comment
  • Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis.
Biomarker applications (based on IPA annotation)
  • safety
Pathway Studio
  • Natural Killer Cell Activation
  • Natural Killer Cell Activation through C-type Lectin-like Receptors

All locus annotations are based on the sentinel SNP (rs2284178) and 1 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
eQTL genes
  • LST1 leukocyte specific transcript 1
  • PSORS1C2 psoriasis susceptibility 1 candidate 2
  • HLA-C major histocompatibility complex, class I, C
  • AIF1 allograft inflammatory factor 1
  • XXbac-BPG299F13.17
  • XXbac-BPG248L24.12
  • CCHCR1 coiled-coil alpha-helical rod protein 1
  • CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
  • MICB MHC class I polypeptide-related sequence B
  • PSORS1C1 psoriasis susceptibility 1 candidate 1
  • VARS2 valyl-tRNA synthetase 2, mitochondrial

 

Results from other genome-wide association studies

Trait P Study Source
HIV-1 control 4.6×10-28 21051598 (PMID) GRASP2 nonQTL
Type 1 diabetes 1×10-16 17632545 (PMID) GRASP2 nonQTL
Methylation levels at chr6:31538845-31538895 [hg18 coord, probe cg13784557] in Frontal cortex 2.5×10-12 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr6:31538845-31538895 [hg18 coord, probe cg13784557] in Temporal cortex 4.1×10-12 20485568 (PMID) GRASP2 meQTL
HIV-1 control (viral load at set point) 5×10-12 20041166 (PMID) GRASP2 nonQTL
Methylation levels at chr6:31538845-31538895 [hg18 coord, probe cg13784557] in Caudal pons 2.7×10-11 20485568 (PMID) GRASP2 meQTL
Idiopathic membranous nephropathy 3.4×10-11 21323541 (PMID) GRASP2 nonQTL
Behcet syndrome 3.1×10-10 pha002888 (dbGaP) dbGaP via SNiPA
Gene expression of HLA-DRB4 [probe 215666_at] in lymphoblastoid cell lines 1.4×10-9 17873877 (PMID) GRASP2 eQTL
Triglycerides 3.7×10-8 24097068 (PMID) Supplemental file
Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines 4.7×10-8 17873877 (PMID) GRASP2 eQTL
Gene expression of HLA-C in CEU lymphoblastoid cell lines 1.9×10-7 17873874 (PMID) GRASP2 eQTL
HIV-1 seropositive nonprogression 4.2×10-7 19115949 (PMID) GRASP2 nonQTL
Bipolar disorder vs. Schizophrenia 5.3×10-7 24280982 (PMID) Supplemental file
HIV-1 control (viral load) 6.3×10-7 21490045 (PMID) GRASP2 nonQTL
Schizophrenia 1.5×10-6 25056061 (PMID) Supplemental file
Height 5×10-6 25282103 (PMID) Supplemental file
Total cholesterol 5.7×10-6 20686565 (PMID) GRASP2 nonQTL
HIV-1-specific cross-reactive neutralizing activity 1.3×10-5 23372753 (PMID) GRASP2 nonQTL
Gene expression of ATP6V1G2///BAT1 in blood 4.5×10-5 21829388 (PMID) GRASP2 eQTL
Cross-disorder, subset Schizophrenia 1.1×10-4 23453885 (PMID) Supplemental file
Gene expression of LST1 [probe ILMN_22195] in osteoblasts treated with PGE2 2.5×10-4 21283786 (PMID) GRASP2 eQTL
HDL cholesterol 4.4×10-4 24097068 (PMID) Supplemental file