On the top is the heatmap of Hi-C contact matrix, with deeper colors for larger contact values. The bold red bar represents the CR region. The DI(directionality index), HS(HMM state) and TB(TAD boundary) help us to determine TAD boundaries. E(Enhancer) reprents the number of basepairs corresponding to strong enhancers in 10 kb bins. The me1(H3K4me1) and ac(H3K27ac) ChIP-seq data help to determin enhancers. The Gene row contains gene information, such as gene names and strand information.
Disease name | Gene name | CR type | Genome loci | PubMed ID | SI Score | P-value |
---|---|---|---|---|---|---|
Acrocallosal syndrome (Polydactyly Type 1) | IHH | Duplication | chr2: 219,876,448 - 220,786,974 | 22234151 | 0 | 1 |