Fig. 3
From: Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
Functional validation of rs4730222. a Gene model of HBP1 ensemble isoform ENST00000468410 (major) and ENST00000497535 (alternative). UCSC genome browser zoomed in to the two transcriptional start sites57. Rs4730222, within the 5′-UTR of the alternative transcript, is indicated by a vertical gray line traversing the annotation tracks. The four black tracks are H3K27ac performed in human embryonic limb bud at E33, E41, E44, and E47, respectively28. The green track is H3K27ac data from chondrocytes derived from cultured bone marrow mesenchymal stem cells29. Layered H3K27ac is H3K27ac ChIP-seq (a marker for active enhancers and active promoters) layered from GM12878, H1-hESC, HSMM, HUVEC, K562, NHEK, and NHLF cells. Layered H3K4me3 is H3K4me3 ChIP-seq (marker for active promoters) layered from the same seven ENCODE cell lines. b Allelic expression imbalance in SW1353, a chondrosarcoma cell line heterozygote for rs4730222. Black bars represent the fraction of the minor allele in DNA, and gray bars indicate the fraction of the minor allele in cDNA. n = 3 independent experiments. c Allelic expression imbalance in Saos-2 cells with the minor allele of rs4730222 introduced through CRISPR-mediated HDR. Bars are the same as in Fig. 3B. n = 4 independent experiments. Source data are provided as a Source Data file
