Table 3

Functional annotations of top SNVs at the three loci associated with lupus nephritis subphenotypes

LocusSNVRegulomeDB*† scorePromoter histone marksEnhancer histone marksDNAse hypersensitivityTFs bound‡eQTL in blood cellseQTL in other tissues
PRDM1rs69245350.703YesYesYes
APOA1BPrs9429600.554YesYesAPOA1BPGPATCH4
MERTKrs560979100.579YesYesYesEBF1, PAX5C20MERTKMERTK, TMEM87B
MERTKrs134195230.705YesYesMAFKMERTKMERTK, FBLN7
  • *The RegulomeDB probability score is ranging from 0 to 1, with 1 being most likely to be a regulatory variant.

  • †Boyle et al.29

  • ‡Transcription factors (TFs) bound in ChIP-Seq experiments (ENCODE Project Consortium, 2011).

  • eQTL, expression quantitative trait locus; SNV, single nucleotide variant.