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Detailed information for vg0700429133:

Variant ID: vg0700429133 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 429133
Reference Allele: GAAlternative Allele: GAA,GAAA,G,TA
Primary Allele: GAASecondary Allele: GA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CATCCATCTCAATGTGCAGCAGCAGCAGAAGCAGTGTATTATTCTGTTGTTAGGAGAGAAGTTCAGAGAAGTAGTAGTAGTCCCTATAAGAAAGGGGAAA[GA/GAA,GAAA,G,TA]
AAAAAAAAAGAAGAAACCCTATCCAAACAAAAACAAAGGGAAGAGAGAAGAAAGTTGGAGACTTGGAGGAGGAACCCTCCACCACCAGCAAAGCCAATAG

Reverse complement sequence

CTATTGGCTTTGCTGGTGGTGGAGGGTTCCTCCTCCAAGTCTCCAACTTTCTTCTCTCTTCCCTTTGTTTTTGTTTGGATAGGGTTTCTTCTTTTTTTTT[TC/TTC,TTTC,C,TA]
TTTCCCCTTTCTTATAGGGACTACTACTACTTCTCTGAACTTCTCTCCTAACAACAGAATAATACACTGCTTCTGCTGCTGCTGCACATTGAGATGGATG

Allele Frequencies:

Populations Population SizeFrequency of GAA(primary allele) Frequency of GA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.30% 47.10% 0.49% 0.00% GAAA: 3.11%; TA: 0.04%
All Indica  2759 78.10% 17.10% 0.69% 0.00% GAAA: 4.13%
All Japonica  1512 0.60% 99.20% 0.07% 0.00% GAAA: 0.13%
Aus  269 50.90% 37.50% 1.12% 0.00% GAAA: 10.41%
Indica I  595 95.00% 3.90% 1.01% 0.00% GAAA: 0.17%
Indica II  465 41.30% 58.10% 0.22% 0.00% GAAA: 0.43%
Indica III  913 82.10% 6.60% 0.44% 0.00% GAAA: 10.84%
Indica Intermediate  786 82.30% 15.10% 1.02% 0.00% GAAA: 1.53%
Temperate Japonica  767 0.30% 99.60% 0.13% 0.00% NA
Tropical Japonica  504 1.20% 98.40% 0.00% 0.00% GAAA: 0.40%
Japonica Intermediate  241 0.40% 99.60% 0.00% 0.00% NA
VI/Aromatic  96 5.20% 94.80% 0.00% 0.00% NA
Intermediate  90 26.70% 67.80% 0.00% 0.00% GAAA: 3.33%; TA: 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
vg0700429133 GA -> GAAA LOC_Os07g01720.1 5_prime_UTR_variant ; 153.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> GAAA LOC_Os07g01730.1 upstream_gene_variant ; 2949.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> GAAA LOC_Os07g01710.1 downstream_gene_variant ; 612.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> GAA LOC_Os07g01720.1 5_prime_UTR_variant ; 153.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> GAA LOC_Os07g01730.1 upstream_gene_variant ; 2949.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> GAA LOC_Os07g01710.1 downstream_gene_variant ; 612.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> TA LOC_Os07g01720.1 5_prime_UTR_variant ; 164.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> TA LOC_Os07g01730.1 upstream_gene_variant ; 2951.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> TA LOC_Os07g01710.1 downstream_gene_variant ; 610.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> G LOC_Os07g01720.1 5_prime_UTR_variant ; 154.0bp to feature; MODIFIER N Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> G LOC_Os07g01730.1 upstream_gene_variant ; 2950.0bp to feature; MODIFIER N Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700429133 GA -> G LOC_Os07g01710.1 downstream_gene_variant ; 611.0bp to feature; MODIFIER N Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0700429133 GA G -0.13 -0.13 -0.04 0.03 0.0 -0.01
vg0700429133 GA GAA -0.05 0.05 0.12 0.01 0.0 -0.01
vg0700429133 GA GAAA -0.04 0.02 0.18 0.02 0.03 0.0
vg0700429133 GA TA 0.04 0.01 -0.02 -0.01 0.0 0.0