Fig. 6: SATB2 regulatory region is more accessible in GWAS risk allele homozygous myometrium.

a Chromatin annotations and significant GWAS signals at SATB2 downstream region. The two shaded regions displayed more accessibility in rs7559104 risk allele homozygotes (RA) compared to non-risk allele homozygotes (WT). TssA: Active TSS, TssAFlnk: Flanking active TSS, TxFlnk: Transcr. at gene 5’ and 3’, Tx: Strong transcription, TxWk: Weak transcription, EnhG: Genic enhancers, Enh: Enhancers, ZNF/Rpts: ZNF genes + repeats, Het: Heterochromatin, TssBiv: Bivalent/poised TSS, BivFlnk: Flanking bivalent TSS/Enh, EnhBiv: Bivalent enhancer, ReprPC: Repressed Polycomb, ReprPCWk: Weak repressed Polycomb, Quies: Quiescent/low. b Tn5 shifted fragment ends at chr2:199194872-199199488. c Tn5 shifted fragment ends at chr2:199271803-199276398. d Chromatin accessibility as normalized fragment end counts (transposase Tn5 insertions per million fragments) for each genotype of SATB2 risk allele (0: n = 5, 1: n = 8, 2: n = 2 biological replicates) at chr2:199197134-199197638 (DAR shown in b-panel). The risk allele was associated with increased Tn5 insertion counts (linear regression, p-value = 0.004). Centre line, median; box limits, 25% and 75% quartiles; whiskers, 1.5 × interquartile range (IQR) past the quartiles. Association statistics calculated with linear regression. e Chromatin accessibility as normalized fragment end counts (transposase Tn5 insertions per million fragments) for each genotype of SATB2 risk allele (0: n = 5, 1: n = 8, 2: n = 2 biological replicates) at chr2:199273659-199274205 (DAR shown in c-panel). The risk allele was associated with increased Tn5 insertion counts (linear regression, p-value = 0.01). Centre line, median; box limits, 25% and 75% quartiles; whiskers, 1.5 × interquartile range (IQR) past the quartiles. Association statistics calculated with linear regression. Source data are provided as a Source Data file.