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Detailed information for vg0228808982:

Variant ID: vg0228808982 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 28808982
Reference Allele: CCTAlternative Allele: CCTCTCT,CCTCT,C
Primary Allele: CCTSecondary Allele: CCTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GATGATGGTGCGCGGTGCGGCGCGACACGCGACGCGATATGCTTTCTCTCTCCTCCTCTTCTTTTGGCTCCGCCTCGCGCGCCACTCTCCCGCCCAGGCG[CCT/CCTCTCT,CCTCT,C]
CTCTCTCTCTCTCTAGTTTCTCGCACCACCTGCCTACATATCGCCACAGCCGCTGTCGTCGTCTCGTCTCTGTGTGTGTGTCTCCATCAGACGCCGGCCA

Reverse complement sequence

TGGCCGGCGTCTGATGGAGACACACACACAGAGACGAGACGACGACAGCGGCTGTGGCGATATGTAGGCAGGTGGTGCGAGAAACTAGAGAGAGAGAGAG[AGG/AGAGAGG,AGAGG,G]
CGCCTGGGCGGGAGAGTGGCGCGCGAGGCGGAGCCAAAAGAAGAGGAGGAGAGAGAAAGCATATCGCGTCGCGTGTCGCGCCGCACCGCGCACCATCATC

Allele Frequencies:

Populations Population SizeFrequency of CCT(primary allele) Frequency of CCTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.20% 5.50% 0.25% 0.00% NA
All Indica  2759 99.50% 0.30% 0.18% 0.00% NA
All Japonica  1512 85.80% 13.90% 0.33% 0.00% NA
Aus  269 98.10% 1.50% 0.37% 0.00% NA
Indica I  595 99.50% 0.00% 0.50% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.10% 0.90% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.00% 0.25% 0.00% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 58.30% 40.90% 0.79% 0.00% NA
Japonica Intermediate  241 98.30% 1.20% 0.41% 0.00% NA
VI/Aromatic  96 67.70% 32.30% 0.00% 0.00% NA
Intermediate  90 90.00% 8.90% 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
vg0228808982 CCT -> CCTCT LOC_Os02g47190.1 5_prime_UTR_variant ; 352.0bp to feature; MODIFIER silent_mutation Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCT LOC_Os02g47180.1 downstream_gene_variant ; 2993.0bp to feature; MODIFIER silent_mutation Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCT LOC_Os02g47200.1 downstream_gene_variant ; 3406.0bp to feature; MODIFIER silent_mutation Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCT LOC_Os02g47180.2 downstream_gene_variant ; 2993.0bp to feature; MODIFIER silent_mutation Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCTCT LOC_Os02g47190.1 5_prime_UTR_variant ; 352.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCTCT LOC_Os02g47180.1 downstream_gene_variant ; 2993.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCTCT LOC_Os02g47200.1 downstream_gene_variant ; 3406.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> CCTCTCT LOC_Os02g47180.2 downstream_gene_variant ; 2993.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> C LOC_Os02g47190.1 5_prime_UTR_variant ; 353.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> C LOC_Os02g47180.1 downstream_gene_variant ; 2991.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> C LOC_Os02g47200.1 downstream_gene_variant ; 3408.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 N N N N
vg0228808982 CCT -> C LOC_Os02g47180.2 downstream_gene_variant ; 2991.0bp to feature; MODIFIER N Average:97.593; most accessible tissue: Minghui63 flag leaf, score: 99.642 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)
vg0228808982 CCT C -0.35 -0.02 -0.05 0.0 -0.02 -0.11
vg0228808982 CCT CCTCT -0.19 -0.24 -0.18 -0.05 -0.13 -0.22
vg0228808982 CCT CCTCT* 0.13 0.18 -0.08 0.19 0.2 0.11