Fig. 2
Allele specificity of IGH-DUX4 translocation and functional Igμ. a Diagram of DUX4 and IGH gene expression at two alleles in Nalm6. Functional Igμ and antisense DUX4 are expressed from different alleles. Green arrows in transcripts indicate the direction of transcription. b Allelic imbalance of H3K27ac ChIP-seq, ATAC-seq, and RNA-seq data in the three heterozygous SNPs (rs1059713, rs1136534, rs3751511) located at IGHM. For RNA-seq, read-out is available only for the two exonic SNPs (rs1059713, rs1136534). One-tailed binomial test (expected probability 0.5) was performed: *p < 0.05, **p < 0.01, ***p < 0.001. c Evaluation of allelic imbalance of DNA methylation near the SNP rs1136534 located in a CG island region. Each CpG site near the SNP is shown by a circle drawn in proportion to the reads coverage used for calculating the methylation ratio (see Methods)
