Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0426380557:

Variant ID: vg0426380557 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 26380557
Reference Allele: ATAlternative Allele: A,ATT
Primary Allele: ATSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCGCCGCCGAAGGCTCCGTCTACGGCCTCTGTAAAATAGCTACGCGAACCCAACCGCATGCATGAACGCCCGCACGCTCTCCCGTGCGTTTGTCTGAAG[AT/A,ATT]
TTTTTTTTTGTGTGTTTGGATTGCTGCAGGGAAGATGTACAGGGACACGGGGACGCTGGGCGGCCTGCTGGTGGTGGCGGTGGCGCACGCGCTGGCGCTG

Reverse complement sequence

CAGCGCCAGCGCGTGCGCCACCGCCACCACCAGCAGGCCGCCCAGCGTCCCCGTGTCCCTGTACATCTTCCCTGCAGCAATCCAAACACACAAAAAAAAA[AT/T,AAT]
CTTCAGACAAACGCACGGGAGAGCGTGCGGGCGTTCATGCATGCGGTTGGGTTCGCGTAGCTATTTTACAGAGGCCGTAGACGGAGCCTTCGGCGGCGAA

Allele Frequencies:

Populations Population SizeFrequency of AT(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 98.40% 1.30% 0.13% 0.00% ATT: 0.19%
All Indica  2759 99.20% 0.40% 0.18% 0.00% ATT: 0.18%
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 80.70% 17.80% 0.00% 0.00% ATT: 1.49%
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 99.00% 0.90% 0.00% 0.00% ATT: 0.11%
Indica Intermediate  786 98.60% 0.30% 0.64% 0.00% ATT: 0.51%
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 97.80% 1.10% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0426380557 AT -> A LOC_Os04g44560.1 downstream_gene_variant ; 485.0bp to feature; MODIFIER silent_mutation Average:89.582; most accessible tissue: Callus, score: 94.179 N N N N
vg0426380557 AT -> A LOC_Os04g44580.1 downstream_gene_variant ; 1431.0bp to feature; MODIFIER silent_mutation Average:89.582; most accessible tissue: Callus, score: 94.179 N N N N
vg0426380557 AT -> A LOC_Os04g44570.1 intron_variant ; MODIFIER silent_mutation Average:89.582; most accessible tissue: Callus, score: 94.179 N N N N
vg0426380557 AT -> ATT LOC_Os04g44560.1 downstream_gene_variant ; 486.0bp to feature; MODIFIER silent_mutation Average:89.582; most accessible tissue: Callus, score: 94.179 N N N N
vg0426380557 AT -> ATT LOC_Os04g44580.1 downstream_gene_variant ; 1430.0bp to feature; MODIFIER silent_mutation Average:89.582; most accessible tissue: Callus, score: 94.179 N N N N
vg0426380557 AT -> ATT LOC_Os04g44570.1 intron_variant ; MODIFIER silent_mutation Average:89.582; most accessible tissue: Callus, score: 94.179 N N N N

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.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0426380557 AT A 0.14 0.17 0.19 0.08 0.11 0.14
vg0426380557 AT ATT 0.02 0.07 0.08 0.0 0.03 0.04