Figure 1. Graphical display of the HBB promoter variants recorded in HbVar, partitioned into unpublished variants contributed by investigators (blue) and published variants (purple).

The genomic position, sequence change and associated phenotype (β⁺ or β⁰ thalassemia) are given for each variant. Known protein-binding sites in the DNA sequence are boxed, with the name of the site and the binding protein above it. The transcription start site (+1) is in reverse type. The reverse complement of the genomic sequence is shown so that the gene is in the conventional left-to-right transcriptional orientation. The image was generated by displaying the results of a query on HbVar in the Pennsylvania State University genome browser followed by editing for clarity. Variants are given using the conventional nomenclature.