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Detailed information for vg0205347448:

Variant ID: vg0205347448 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5347448
Reference Allele: TCTCTCTCTCTCTCTCAAlternative Allele: ACTCTCTCTCTCTCTCA,T
Primary Allele: TCTCTCTCTCTCTCTCASecondary Allele: ACTCTCTCTCTCTCTCA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGTCGCGGCGGCGGCGGAGGCCGAGGCGGCGGTGGCGGAGGAGGCGTGCGGGGATTGGAATCGCGAGCTCGGTGCGCGTGGTGGCGTCTCCTCTCTCTC[TCTCTCTCTCTCTCTCA/ACTCTCTCTCTCTCTCA,T]
CTCTCTCTCTTCAGGGGAAGGTGGGGGTGGGGGGAGAGAGAGACACTGATAAAAAAGAAAGCCCCCGATGGCGACGGGGAAATTACCGGTTTGCCCCTCG

Reverse complement sequence

CGAGGGGCAAACCGGTAATTTCCCCGTCGCCATCGGGGGCTTTCTTTTTTATCAGTGTCTCTCTCTCCCCCCACCCCCACCTTCCCCTGAAGAGAGAGAG[TGAGAGAGAGAGAGAGA/TGAGAGAGAGAGAGAGT,A]
GAGAGAGAGGAGACGCCACCACGCGCACCGAGCTCGCGATTCCAATCCCCGCACGCCTCCTCCGCCACCGCCGCCTCGGCCTCCGCCGCCGCCGCGACCA

Allele Frequencies:

Populations Population SizeFrequency of TCTCTCTCTCTCTCTCA(primary allele) Frequency of ACTCTCTCTCTCTCTCA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 66.50% 0.10% 11.66% 21.63% T: 0.02%
All Indica  2759 47.20% 0.20% 19.25% 33.38% T: 0.04%
All Japonica  1512 99.10% 0.10% 0.26% 0.60% NA
Aus  269 71.00% 0.40% 2.23% 26.39% NA
Indica I  595 31.90% 0.00% 20.34% 47.73% NA
Indica II  465 42.80% 0.00% 17.63% 39.57% NA
Indica III  913 57.70% 0.50% 19.50% 22.12% T: 0.11%
Indica Intermediate  786 49.00% 0.00% 19.08% 31.93% NA
Temperate Japonica  767 99.10% 0.00% 0.13% 0.78% NA
Tropical Japonica  504 99.40% 0.00% 0.40% 0.20% NA
Japonica Intermediate  241 98.30% 0.40% 0.41% 0.83% NA
VI/Aromatic  96 88.50% 0.00% 4.17% 7.29% NA
Intermediate  90 77.80% 0.00% 6.67% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205347448 TCTCTCTCTCTCTCTCA -> T LOC_Os02g10200.1 5_prime_UTR_variant ; 891.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> T LOC_Os02g10200.2 5_prime_UTR_variant ; 891.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> T LOC_Os02g10210.1 upstream_gene_variant ; 1271.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> T LOC_Os02g10220.1 upstream_gene_variant ; 4018.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> T LOC_Os02g10190.1 downstream_gene_variant ; 2931.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> ACTCTCTCTCTCTCTCA LOC_Os02g10200.1 5_prime_UTR_variant ; 890.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> ACTCTCTCTCTCTCTCA LOC_Os02g10200.2 5_prime_UTR_variant ; 890.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> ACTCTCTCTCTCTCTCA LOC_Os02g10210.1 upstream_gene_variant ; 1272.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> ACTCTCTCTCTCTCTCA LOC_Os02g10220.1 upstream_gene_variant ; 4019.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> ACTCTCTCTCTCTCTCA LOC_Os02g10190.1 downstream_gene_variant ; 2930.0bp to feature; MODIFIER silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 N N N N
vg0205347448 TCTCTCTCTCTCTCTCA -> DEL N N silent_mutation Average:99.516; most accessible tissue: Minghui63 root, score: 99.774 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)
vg0205347448 TCTCT* ACTCT* -0.01 -0.01 -0.03 0.02 -0.01 -0.01
vg0205347448 TCTCT* T -0.16 -0.17 -0.12 -0.17 -0.11 -0.1