Fig. 1

Genomic loci and haplotype architecture of DUX4C and DUX4T. a DUX4C (DUX4L9) is located between FRG1 and FRG2 on chromosome 4, whereas DUX4T resides within the terminal D4Z4 repeats on chromosomes 4 and 10. SNPs are shown as colored dots; DUX4C-defining SNPs are indicated in red (genotyping SNPs) and blue. SNPs located in the 3′ region of DUX4C correspond to cCREs. PAS and PAS-like motifs of DUX4T are shown as green bars, and SNP in DUX4-10qA is shown as black dot. b Pairwise LD (r²) matrix of DUX4L9 eQTLs in the European population. The same SNPs and color scheme as in (a) are used to indicate functional annotation. Symbols “●” and “▲” denote block 1 and block 2, respectively. c Pairwise LD (r²) matrix of DUX4L9 eQTLs in the Japanese population. Symbols “□” and “△” denote block 1 and block 2, respectively. d Haplotype frequency distribution of DUX4C-4qα and DUX4C-4qβ in the European population. e Haplotype frequency distribution of DUX4C-4qα and DUX4C-4qβ in the Japanese population