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Detailed information for vg0205477743:

Variant ID: vg0205477743 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5477743
Reference Allele: TAAAlternative Allele: TAAA,AAA,T
Primary Allele: TAASecondary Allele: TAAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCTGCAGTTTTGTGCACAACGGTTGGTCATATTGGGAGATGGACTTTTGAAACAGATACTGCTCATTCCGTTTTATATTATAAAGCGTTTTGATTTTTTT[TAA/TAAA,AAA,T]
AATTTAAACTTTTTTAAGTTTGATTAAATTCGTAAAAAAAATATAGTAACAAACCTAAAGAATTTTGATTTAAAAAATCAAAACAAATTGTAATATGAGA

Reverse complement sequence

TCTCATATTACAATTTGTTTTGATTTTTTAAATCAAAATTCTTTAGGTTTGTTACTATATTTTTTTTACGAATTTAATCAAACTTAAAAAAGTTTAAATT[TTA/TTTA,TTT,A]
AAAAAAATCAAAACGCTTTATAATATAAAACGGAATGAGCAGTATCTGTTTCAAAAGTCCATCTCCCAATATGACCAACCGTTGTGCACAAAACTGCAGG

Allele Frequencies:

Populations Population SizeFrequency of TAA(primary allele) Frequency of TAAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 97.00% 2.70% 0.15% 0.00% AAA: 0.11%; T: 0.04%
All Indica  2759 95.40% 4.40% 0.14% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 98.90% 0.40% 0.00% 0.00% T: 0.74%
Indica I  595 95.30% 4.40% 0.34% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 96.90% 3.10% 0.00% 0.00% NA
Indica Intermediate  786 91.10% 8.70% 0.25% 0.00% NA
Temperate Japonica  767 99.90% 0.10% 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 95.80% 0.00% 1.04% 0.00% AAA: 3.12%
Intermediate  90 92.20% 3.30% 2.22% 0.00% AAA: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205477743 TAA -> AAA LOC_Os02g10400.1 upstream_gene_variant ; 2609.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> AAA LOC_Os02g10410.1 upstream_gene_variant ; 1785.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> AAA LOC_Os02g10440.1 upstream_gene_variant ; 4985.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> AAA LOC_Os02g10430.1 downstream_gene_variant ; 955.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> AAA LOC_Os02g10430.2 downstream_gene_variant ; 955.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> AAA LOC_Os02g10420.1 intron_variant ; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> T LOC_Os02g10400.1 upstream_gene_variant ; 2610.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> T LOC_Os02g10410.1 upstream_gene_variant ; 1786.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> T LOC_Os02g10440.1 upstream_gene_variant ; 4984.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> T LOC_Os02g10430.1 downstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> T LOC_Os02g10430.2 downstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> T LOC_Os02g10420.1 intron_variant ; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> TAAA LOC_Os02g10400.1 upstream_gene_variant ; 2612.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> TAAA LOC_Os02g10410.1 upstream_gene_variant ; 1788.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> TAAA LOC_Os02g10440.1 upstream_gene_variant ; 4982.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> TAAA LOC_Os02g10430.1 downstream_gene_variant ; 952.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> TAAA LOC_Os02g10430.2 downstream_gene_variant ; 952.0bp to feature; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 N N N N
vg0205477743 TAA -> TAAA LOC_Os02g10420.1 intron_variant ; MODIFIER silent_mutation Average:52.295; most accessible tissue: Minghui63 flower, score: 86.369 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)
vg0205477743 TAA AAA 0.01 0.01 0.0 0.0 0.01 0.01
vg0205477743 TAA T 0.06 -0.05 -0.02 -0.11 -0.13 -0.08
vg0205477743 TAA TAAA -0.17 -0.18 -0.12 -0.14 -0.19 -0.18