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. Author manuscript; available in PMC: 2018 Sep 1.
Published in final edited form as: Hum Mutat. 2017 Mar 9;38(9):1240–1250. doi: 10.1002/humu.23197

Figure 1.

Figure 1

Experimental and challenge design: (A) Selection of regulatory regions that harbor a short polymorphism (SNV or indel). (B) Design of MPRA constructs for both reference and alternative alleles. (C) Transfection into two different LCLs. (D) Data provided for the challenge. (E) Alternative vs. reference allele expression for training set regions (i) regulatory hit/non-regulatory regions (ii) emVar hit/non- emVar regions (iii) indel/SNP regions are marked in blue/red respectively. (iv) exon, intron, promoter and distal regions are marked in red/blue/green/black respectively.