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Detailed information for vg0204868656:

Variant ID: vg0204868656 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 4868656
Reference Allele: AAlternative Allele: AAAT
Primary Allele: ASecondary Allele: AAAT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCGCCGTGGCCGAGTCCTTCATGCCGCAGCTCGTCGACGGCGTCATGCGCGCCGCCGCCGAGAGGGTCGGCGTCGTGACCCGCCAATAAAACCCCCCAA[A/AAAT]
AATAAAAAAAAAATCAACCATCCCGGTTCAAATTCACCACAAATGCACGGTGAAAAACCACCTGTTAATTATGAGATCTGTGTAGTATTATTAGCACTAG

Reverse complement sequence

CTAGTGCTAATAATACTACACAGATCTCATAATTAACAGGTGGTTTTTCACCGTGCATTTGTGGTGAATTTGAACCGGGATGGTTGATTTTTTTTTTATT[T/ATTT]
TTGGGGGGTTTTATTGGCGGGTCACGACGCCGACCCTCTCGGCGGCGGCGCGCATGACGCCGTCGACGAGCTGCGGCATGAAGGACTCGGCCACGGCGCC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of AAAT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.70% 0.10% 4.51% 0.70% NA
All Indica  2759 93.90% 0.00% 5.15% 0.87% NA
All Japonica  1512 99.70% 0.00% 0.33% 0.00% NA
Aus  269 80.70% 0.00% 17.47% 1.86% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 89.90% 0.00% 9.89% 0.22% NA
Indica III  913 92.10% 0.00% 6.02% 1.86% NA
Indica Intermediate  786 94.00% 0.10% 5.09% 0.76% NA
Temperate Japonica  767 99.90% 0.00% 0.13% 0.00% NA
Tropical Japonica  504 99.80% 0.00% 0.20% 0.00% NA
Japonica Intermediate  241 98.80% 0.00% 1.24% 0.00% NA
VI/Aromatic  96 82.30% 0.00% 14.58% 3.12% NA
Intermediate  90 91.10% 2.20% 5.56% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0204868656 A -> AAAT LOC_Os02g09480.1 3_prime_UTR_variant ; 17.0bp to feature; MODIFIER silent_mutation Average:92.937; most accessible tissue: Minghui63 panicle, score: 98.021 N N N N
vg0204868656 A -> AAAT LOC_Os02g09490.1 downstream_gene_variant ; 1485.0bp to feature; MODIFIER silent_mutation Average:92.937; most accessible tissue: Minghui63 panicle, score: 98.021 N N N N
vg0204868656 A -> DEL N N silent_mutation Average:92.937; most accessible tissue: Minghui63 panicle, score: 98.021 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)
vg0204868656 A AAAT -0.1 0.08 0.02 -0.03 -0.04 -0.08