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Detailed information for vg0103097529:

Variant ID: vg0103097529 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 3097529
Reference Allele: GAAlternative Allele: GAA,G
Primary Allele: GASecondary Allele: GAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATGATATGACGAGCAATAATTCAACCAAAAATGGACAGAACATTAAGAAAAGAACACCTTTTCAACAACAAAAAAAATTAAGAGAGAAAAAAAACAACA[GA/GAA,G]
AAAAATTATGGAAGGCGCGTACAATACAGAGATCTCGCTCAAACTTGTCATCAACCTCATCGTCACAGCCCCAACCAGACGCTCGCCAAGGCAAGAACCA

Reverse complement sequence

TGGTTCTTGCCTTGGCGAGCGTCTGGTTGGGGCTGTGACGATGAGGTTGATGACAAGTTTGAGCGAGATCTCTGTATTGTACGCGCCTTCCATAATTTTT[TC/TTC,C]
TGTTGTTTTTTTTCTCTCTTAATTTTTTTTGTTGTTGAAAAGGTGTTCTTTTCTTAATGTTCTGTCCATTTTTGGTTGAATTATTGCTCGTCATATCATT

Allele Frequencies:

Populations Population SizeFrequency of GA(primary allele) Frequency of GAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 88.10% 11.80% 0.06% 0.00% G: 0.02%
All Indica  2759 98.60% 1.40% 0.00% 0.00% NA
All Japonica  1512 66.10% 33.70% 0.13% 0.00% G: 0.07%
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.50% 1.50% 0.00% 0.00% NA
Indica II  465 98.50% 1.50% 0.00% 0.00% NA
Indica III  913 99.00% 1.00% 0.00% 0.00% NA
Indica Intermediate  786 98.30% 1.70% 0.00% 0.00% NA
Temperate Japonica  767 93.10% 6.90% 0.00% 0.00% NA
Tropical Japonica  504 22.60% 77.00% 0.40% 0.00% NA
Japonica Intermediate  241 71.40% 28.20% 0.00% 0.00% G: 0.41%
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 84.40% 14.40% 1.11% 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
vg0103097529 GA -> G LOC_Os01g06580.1 3_prime_UTR_variant ; 63.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> G LOC_Os01g06560.1 upstream_gene_variant ; 4665.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> G LOC_Os01g06560.2 upstream_gene_variant ; 4665.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> G LOC_Os01g06570.1 downstream_gene_variant ; 1600.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> G LOC_Os01g06590.1 downstream_gene_variant ; 1898.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> G LOC_Os01g06590.2 downstream_gene_variant ; 1898.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> G LOC_Os01g06590.3 downstream_gene_variant ; 2116.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06580.1 3_prime_UTR_variant ; 62.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06560.1 upstream_gene_variant ; 4666.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06560.2 upstream_gene_variant ; 4666.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06570.1 downstream_gene_variant ; 1601.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06590.1 downstream_gene_variant ; 1897.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06590.2 downstream_gene_variant ; 1897.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 N N N N
vg0103097529 GA -> GAA LOC_Os01g06590.3 downstream_gene_variant ; 2115.0bp to feature; MODIFIER silent_mutation Average:86.098; most accessible tissue: Zhenshan97 flag leaf, score: 96.826 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)
vg0103097529 GA G -0.1 0.04 0.11 -0.02 -0.01 -0.01
vg0103097529 GA GAA -0.04 0.07 0.18 -0.01 -0.01 -0.04