The human HBB locus and upstream olfactory receptor genes, chromosome 11 from 5 150 000 to 5 500 000 base pairs. Regions of interest (solid) were identified as associated with HbF levels in Sardinians, and regions of interest (striped) were identified in the current GWAS. rs500684 and rs2071348 were significantly associated with HbF in CSSCD (P = 4.7E−08, P = 2.5E−05). rs139161 and rs968856 (brackets) were reported among the top SNPs in Sardinians but were not significantly associated with HbF in the CSSCD or replication sets. Note that base pair locations are reported along the forward direction in kilobases, whereas the HBB locus is transcribed in the reverse direction. CTCF binding predictions were generated by screening for high-interest potential matches from a BLAST search (http://blast.ncbi.nlm.nih.gov) using one of 2 published CTCF consensus sequences: either 5′-GTGGCCACCAGGGGGCGCCG-3′ or 5′-CCGCTAGGGGGCAGCA-3′.⁴⁵