Chromatin variants and human disease

James’ mammoth study (Prendergast et al, 2012) of human chromatin variation is published; it involved remapping 1.3 billion sequencing reads. He shows that it is possible to find variable sites in the human genome (SNPs) where the different variants (alleles) present carry different chromatin structures. These sites seem to be surprisingly rare in embryonic stem cells, but there is evidence that they affect gene expression and are associated with human disease.