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Detailed information for vg0524321117:

Variant ID: vg0524321117 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 24321117
Reference Allele: CTAAlternative Allele: CTATATATATATA,CTATATATATA,C,CTATATATATATATA,CTATATATATATATATATATATATATA,CTATATATATATATATA
Primary Allele: CTASecondary Allele: CTATATATATATA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACACATTGAATACTAACAGATATCAGAACTGAAGTATACTTCATTTACATACTGGCATTACAATTTTCAAAAACATGATTAAGCACATATTCTTGCAGTG[CTA/CTATATATATATA,CTATATATATA,C,CTATATATATATATA,CTATATATATATATATATATATATATA,CTATATATATATATATA]
TATATATATATACACGAGTACTCCGTAGTCTATACACAGTGAACACTTACACGAGGAGTCATTAACTAAAAAAGAAAAACTTACACAAGGAGTATCATTA

Reverse complement sequence

TAATGATACTCCTTGTGTAAGTTTTTCTTTTTTAGTTAATGACTCCTCGTGTAAGTGTTCACTGTGTATAGACTACGGAGTACTCGTGTATATATATATA[TAG/TATATATATATAG,TATATATATAG,G,TATATATATATATAG,TATATATATATATATATATATATATAG,TATATATATATATATAG]
CACTGCAAGAATATGTGCTTAATCATGTTTTTGAAAATTGTAATGCCAGTATGTAAATGAAGTATACTTCAGTTCTGATATCTGTTAGTATTCAATGTGT

Allele Frequencies:

Populations Population SizeFrequency of CTA(primary allele) Frequency of CTATATATATATA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 95.00% 2.40% 2.14% 0.00% CTATATATATATATA: 0.19%; CTATATATATA: 0.13%; CTATATATATATATATA: 0.06%; CTATATATATATATATATATATATATA: 0.06%
All Indica  2759 98.60% 0.50% 0.72% 0.00% CTATATATATATATATATATATATATA: 0.11%; CTATATATATATATA: 0.04%; CTATATATATATATATA: 0.04%
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 32.70% 34.90% 26.77% 0.00% CTATATATATATATA: 2.97%; CTATATATATA: 1.86%; CTATATATATATATATA: 0.74%
Indica I  595 99.20% 0.00% 0.34% 0.00% CTATATATATATATATATATATATATA: 0.34%; CTATATATATATATATA: 0.17%
Indica II  465 99.60% 0.00% 0.43% 0.00% NA
Indica III  913 98.70% 0.40% 0.66% 0.00% CTATATATATATATA: 0.11%; CTATATATATATATATATATATATATA: 0.11%
Indica Intermediate  786 97.60% 1.10% 1.27% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 84.40% 7.30% 7.29% 0.00% CTATATATATA: 1.04%
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
vg0524321117 CTA -> CTATATATATA LOC_Os05g41540.1 3_prime_UTR_variant ; 255.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATA LOC_Os05g41530.1 downstream_gene_variant ; 4053.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATA LOC_Os05g41550.2 downstream_gene_variant ; 4453.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATA LOC_Os05g41550.5 downstream_gene_variant ; 3335.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATA LOC_Os05g41550.3 downstream_gene_variant ; 4472.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATA LOC_Os05g41540.1 3_prime_UTR_variant ; 255.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATA LOC_Os05g41530.1 downstream_gene_variant ; 4053.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATA LOC_Os05g41550.2 downstream_gene_variant ; 4453.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATA LOC_Os05g41550.5 downstream_gene_variant ; 3335.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATA LOC_Os05g41550.3 downstream_gene_variant ; 4472.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATA LOC_Os05g41540.1 3_prime_UTR_variant ; 255.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATA LOC_Os05g41530.1 downstream_gene_variant ; 4053.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATA LOC_Os05g41550.2 downstream_gene_variant ; 4453.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATA LOC_Os05g41550.5 downstream_gene_variant ; 3335.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATA LOC_Os05g41550.3 downstream_gene_variant ; 4472.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATATATATATATA LOC_Os05g41540.1 3_prime_UTR_variant ; 255.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATATATATATATA LOC_Os05g41530.1 downstream_gene_variant ; 4053.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATATATATATATA LOC_Os05g41550.2 downstream_gene_variant ; 4453.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATATATATATATA LOC_Os05g41550.5 downstream_gene_variant ; 3335.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATATATATATATATA LOC_Os05g41550.3 downstream_gene_variant ; 4472.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATA LOC_Os05g41540.1 3_prime_UTR_variant ; 255.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATA LOC_Os05g41530.1 downstream_gene_variant ; 4053.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATA LOC_Os05g41550.2 downstream_gene_variant ; 4453.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATA LOC_Os05g41550.5 downstream_gene_variant ; 3335.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> CTATATATATATATA LOC_Os05g41550.3 downstream_gene_variant ; 4472.0bp to feature; MODIFIER silent_mutation Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> C LOC_Os05g41540.1 3_prime_UTR_variant ; 256.0bp to feature; MODIFIER N Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> C LOC_Os05g41530.1 downstream_gene_variant ; 4051.0bp to feature; MODIFIER N Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> C LOC_Os05g41550.2 downstream_gene_variant ; 4455.0bp to feature; MODIFIER N Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> C LOC_Os05g41550.5 downstream_gene_variant ; 3337.0bp to feature; MODIFIER N Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 N N N N
vg0524321117 CTA -> C LOC_Os05g41550.3 downstream_gene_variant ; 4474.0bp to feature; MODIFIER N Average:78.234; most accessible tissue: Zhenshan97 flag leaf, score: 94.973 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)
vg0524321117 CTA C -0.08 -0.25 -0.1 -0.09 -0.12 -0.08
vg0524321117 CTA CTATA* -0.03 -0.11 0.11 -0.1 -0.17 -0.11