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Detailed information for vg1223100837:

Variant ID: vg1223100837 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23100837
Reference Allele: TAlternative Allele: A
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, others allele: 0.00, population size: 103. )

Flanking Sequence (100 bp) in Reference Genome:


CTGTGCCATCTGCTTCGACATGTTCGCCCCCGGTAGGATGAGATCGACGGGGTGCTCCCACAGTCCCACTACAACTGCATCGCTTCGGTGCCCGGACCCC[T/A]
CCTGCTCGGTCGCCGGTGGAGGCGAGCGCGGCGACCTTTCCTGAGGAGGGCGCGGGGGCGGAAGGCGGTGCTGGAGAACAGCCACCGGAGGCCGAGGCAA

Reverse complement sequence

TTGCCTCGGCCTCCGGTGGCTGTTCTCCAGCACCGCCTTCCGCCCCCGCGCCCTCCTCAGGAAAGGTCGCCGCGCTCGCCTCCACCGGCGACCGAGCAGG[A/T]
GGGGTCCGGGCACCGAAGCGATGCAGTTGTAGTGGGACTGTGGGAGCACCCCGTCGATCTCATCCTACCGGGGGCGAACATGTCGAAGCAGATGGCACAG

Allele Frequencies:

Allele Effect:

Effects Predicted by Deep Convolutional Neural Networks

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.

Putative Genotype-Phenotype Associations: