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Detailed information for vg0219342069:

Variant ID: vg0219342069 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 19342069
Reference Allele: TAlternative Allele: TTCG
Primary Allele: TSecondary Allele: TTCG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAATGGACAGATAAATATTCCCCCCTCAAGCTCTTTGTCTTCTCCTGCTCCTCCCGATCCCAATCCGCCATTGGTGGGCGCCAAGCTCAGCTCGTTGCTC[T/TTCG]
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCACTCGCTGCCCACTCATTGGGAAAAATCCGAGCTCGGATTGAGGTTTGTTGGTAAGACGGACAGCCAT

Reverse complement sequence

ATGGCTGTCCGTCTTACCAACAAACCTCAATCCGAGCTCGGATTTTTCCCAATGAGTGGGCAGCGAGTGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA[A/CGAA]
GAGCAACGAGCTGAGCTTGGCGCCCACCAATGGCGGATTGGGATCGGGAGGAGCAGGAGAAGACAAAGAGCTTGAGGGGGGAATATTTATCTGTCCATTG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TTCG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.20% 4.10% 1.63% 0.00% NA
All Indica  2759 90.40% 6.90% 2.72% 0.00% NA
All Japonica  1512 99.80% 0.20% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 92.10% 4.90% 3.03% 0.00% NA
Indica II  465 89.70% 9.00% 1.29% 0.00% NA
Indica III  913 89.20% 8.80% 2.08% 0.00% NA
Indica Intermediate  786 90.80% 5.10% 4.07% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.60% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 97.80% 0.00% 2.22% 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
vg0219342069 T -> TTCG LOC_Os02g32620.1 5_prime_UTR_variant ; 96.0bp to feature; MODIFIER silent_mutation Average:92.29; most accessible tissue: Minghui63 root, score: 98.05 N N N N
vg0219342069 T -> TTCG LOC_Os02g32630.1 upstream_gene_variant ; 3667.0bp to feature; MODIFIER silent_mutation Average:92.29; most accessible tissue: Minghui63 root, score: 98.05 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)
vg0219342069 T TTCG 0.04 0.06 0.12 0.1 0.05 0.09