Fig. 3

ACD-mut samples contain two hypermethylated regions in the 60 kb FOXF1 enhancer potentially altering FOXF1 expression. a Overview of the FOXF1 locus in UCSC genome browser (GRCh38) and methylation patterns of ACD-mut samples (orange) and control samples (grey) in the 60 kb enhancer in IGV viewer. Red asterisk in upper panel: significant DMRs between ACD-mut and control samples. b Mean and standard deviation of normalized read counts in DMR1 and DMR2 for all lung samples (*p < 0.05 in group vs. group analysis).c Overview of the 60 kb enhancer region in UCSC genome browser (GRCh38). DMR1 and DMR2 are located within the 15 kb critical region (light green). DMR2 overlaps with the region that physically interacts with the FOXF1 promotor (light blue) [10] and is located close to the H3K4Me1 peak of human lung fibroblasts (pink). Both DMRs are downstream of the previous proposed paternally methylated region (purple) [16] and GLI2 binding sites (yellow) [10]