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Detailed information for vg1107011450:

Variant ID: vg1107011450 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 7011450
Reference Allele: CTAlternative Allele: C
Primary Allele: CSecondary Allele: CT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGATCCAAACTTTGGATCTAAACACAGCCTACAAACAAAAGTATTTGCTGAGTGTTGACCGAATTTAGTCGAAGCAGCATCAGCTTTAGCAACAATTGCC[CT/C]
TTTTTTTATTCATAGCTCTGAAGCAAATAAATTGCATCTTCTTCCACATCCAAAATCTATACCATTCAGTTTTGTACTCCTAAACATTCGTGATGATTCT

Reverse complement sequence

AGAATCATCACGAATGTTTAGGAGTACAAAACTGAATGGTATAGATTTTGGATGTGGAAGAAGATGCAATTTATTTGCTTCAGAGCTATGAATAAAAAAA[AG/G]
GGCAATTGTTGCTAAAGCTGATGCTGCTTCGACTAAATTCGGTCAACACTCAGCAAATACTTTTGTTTGTAGGCTGTGTTTAGATCCAAAGTTTGGATCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.00% 32.50% 2.71% 4.82% NA
All Indica  2759 86.10% 3.60% 4.17% 6.09% NA
All Japonica  1512 8.00% 87.90% 0.33% 3.77% NA
Aus  269 98.10% 1.50% 0.37% 0.00% NA
Indica I  595 89.40% 3.90% 3.70% 3.03% NA
Indica II  465 94.60% 2.80% 1.08% 1.51% NA
Indica III  913 82.10% 3.70% 4.27% 9.86% NA
Indica Intermediate  786 83.20% 3.80% 6.23% 6.74% NA
Temperate Japonica  767 4.70% 95.30% 0.00% 0.00% NA
Tropical Japonica  504 11.10% 78.20% 0.60% 10.12% NA
Japonica Intermediate  241 12.00% 84.60% 0.83% 2.49% NA
VI/Aromatic  96 19.80% 79.20% 1.04% 0.00% NA
Intermediate  90 60.00% 30.00% 6.67% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1107011450 CT -> DEL N N silent_mutation Average:55.826; most accessible tissue: Minghui63 root, score: 87.364 N N N N
vg1107011450 CT -> C LOC_Os11g12530.1 3_prime_UTR_variant ; 373.0bp to feature; MODIFIER silent_mutation Average:55.826; most accessible tissue: Minghui63 root, score: 87.364 N N N N
vg1107011450 CT -> C LOC_Os11g12520.1 downstream_gene_variant ; 4216.0bp to feature; MODIFIER silent_mutation Average:55.826; most accessible tissue: Minghui63 root, score: 87.364 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)
vg1107011450 CT C 0.16 0.0 0.0 -0.05 0.0 -0.01