Figure 4

SNVs in the putative DEFB4 promoter region ~1.9 kb upstream of the transcription start site inferred from the NA12716 and NA12760 sequence alignments with variants' allele frequencies (VAF) in comparison to the reference NCBI build 36.1 (hg18) and to variations identified by Groth et al. [25]. Dash: homozygote for the hg18 allele NA12760 HTs: haplotypes from SNV combinations represented by >30 sequences (+): confirmation of polymorphisms identified in [25]; for SNV details see additional file18. SNVs 252 and 260 (blue) were found to be polymorphic in NA12716 and/or NA12760 by the present study but not in [25].