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Detailed information for vg0620099120:

Variant ID: vg0620099120 (JBrowse)Variation Type: INDEL
Chromosome: chr06Position: 20099120
Reference Allele: CAlternative Allele: CGCA
Primary Allele: CSecondary Allele: CGCA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCGCTCGGAGGCGATACACAGCCGGCAGGGGCAGCGACTCTGCTCGCCGAAGGAATGGGGATGGGCTGTTCATCAGAGCTCGCGCCCCGCCGCCGCCGC[C/CGCA]
GCAGCCGCGAATTGATCGCTCCATCGATGGGACCAAGTTTGGATGGATAGGATATGGAATCAGTTTTTTTGCAAGGACAAGCTAATAGGGATTACTCTGT

Reverse complement sequence

ACAGAGTAATCCCTATTAGCTTGTCCTTGCAAAAAAACTGATTCCATATCCTATCCATCCAAACTTGGTCCCATCGATGGAGCGATCAATTCGCGGCTGC[G/TGCG]
GCGGCGGCGGCGGGGCGCGAGCTCTGATGAACAGCCCATCCCCATTCCTTCGGCGAGCAGAGTCGCTGCCCCTGCCGGCTGTGTATCGCCTCCGAGCGAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CGCA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.60% 0.10% 0.36% 6.92% NA
All Indica  2759 99.80% 0.00% 0.00% 0.22% NA
All Japonica  1512 79.60% 0.20% 0.99% 19.18% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.10% 0.00% 0.00% 0.86% NA
Indica III  913 99.90% 0.00% 0.00% 0.11% NA
Indica Intermediate  786 99.90% 0.00% 0.00% 0.13% NA
Temperate Japonica  767 89.40% 0.00% 0.65% 9.91% NA
Tropical Japonica  504 78.80% 0.00% 0.99% 20.24% NA
Japonica Intermediate  241 50.20% 1.20% 2.07% 46.47% NA
VI/Aromatic  96 72.90% 0.00% 2.08% 25.00% NA
Intermediate  90 90.00% 2.20% 0.00% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0620099120 C -> DEL N N silent_mutation Average:86.446; most accessible tissue: Zhenshan97 root, score: 95.843 N N N N
vg0620099120 C -> CGCA LOC_Os06g34550.1 upstream_gene_variant ; 4164.0bp to feature; MODIFIER silent_mutation Average:86.446; most accessible tissue: Zhenshan97 root, score: 95.843 N N N N
vg0620099120 C -> CGCA LOC_Os06g34564.1 downstream_gene_variant ; 3567.0bp to feature; MODIFIER silent_mutation Average:86.446; most accessible tissue: Zhenshan97 root, score: 95.843 N N N N
vg0620099120 C -> CGCA LOC_Os06g34560.1 intron_variant ; MODIFIER silent_mutation Average:86.446; most accessible tissue: Zhenshan97 root, score: 95.843 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)
vg0620099120 C CGCA -0.05 -0.21 -0.22 -0.1 -0.11 -0.14