Variant ID: vg0600634154 (JBrowse) | Variation Type: INDEL |
Chromosome: chr06 | Position: 634154 |
Reference Allele: TTTTTTTTGCAGTAATTAATAACTGGTAAAATGACCAAAGAACAATATTTATCCACAACATTGGGGGTCGGAGAATTAAACACCGACCCCCCGG | Alternative Allele: TTTTTCTTTTTTTGCAGTAATTAATAACTGGTAAAATGACCAAAGAACAATATTTATCCACAACATTGGGGGTCGGAGAATTAAACACCGACCCCCCGG,T |
Primary Allele: TTTTTTTTGCAGTAATTAAT AACTGGTAAAATGACCAAAG AACAATATTTATCCACAACA TTGGGGGTCGGAGAATTAAA CACCGACCCCCCGG | Secondary Allele: TTTTTCTTTTTTTGCAGTAA TTAATAACTGGTAAAATGAC CAAAGAACAATATTTATCCA CAACATTGGGGGTCGGAGAA TTAAACACCGACCCCCCGG |
Inferred Ancestral Allele: Not determined.
CAAGGTTTTTGCAAAACTTATACCATTTAATAGCTCGGGAGGAATGTGTTCATGGTAATCATCATCCATTAACTGAAGAAAAACCTTTGAATCTTATAGA[TTTTTTTTGCAGTAATTAATAACTGGTAAAATGACCAAAGAACAATATTTATCCACAACATTGGGGGTCGGAGAATTAAACACCGACCCCCCGG/TTTTTCTTTTTTTGCAGTAATTAATAACTGGTAAAATGACCAAAGAACAATATTTATCCACAACATTGGGGGTCGGAGAATTAAACACCGACCCCCCGG,T]
TTGTGTCCAGAACTCCAGGAAATGATTTTATAAGCTCACACAACACAACTTACACAAGTCACAAAACACGCATGATAATGATTTTACAAGCTAACCATTT
AAATGGTTAGCTTGTAAAATCATTATCATGCGTGTTTTGTGACTTGTGTAAGTTGTGTTGTGTGAGCTTATAAAATCATTTCCTGGAGTTCTGGACACAA[CCGGGGGGTCGGTGTTTAATTCTCCGACCCCCAATGTTGTGGATAAATATTGTTCTTTGGTCATTTTACCAGTTATTAATTACTGCAAAAAAAA/CCGGGGGGTCGGTGTTTAATTCTCCGACCCCCAATGTTGTGGATAAATATTGTTCTTTGGTCATTTTACCAGTTATTAATTACTGCAAAAAAAGAAAAA,A]
TCTATAAGATTCAAAGGTTTTTCTTCAGTTAATGGATGATGATTACCATGAACACATTCCTCCCGAGCTATTAAATGGTATAAGTTTTGCAAAAACCTTG
For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.