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Detailed information for vg0702848923:

Variant ID: vg0702848923 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 2848923
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, A: 0.01, others allele: 0.00, population size: 120. )

Flanking Sequence (100 bp) in Reference Genome:


CGCTGAGCAGAAGCCGGTGTTAGCCGTAGTCGTGTGGTCGCCGGCGAGTTCTGGCGAGCACCACAAGTCGACGGTGGAAGAAGACAGTACCGCGTCGGGC[G/A]
AGTGGTGACGTGCAGCAGAATCCAGCGGTGGTCGAAGGTTTTTCCTTGCCGGCGAGTTCTTTTGCGCAACACAGGAGGGTGACGGAAAACTGATGAATGG

Reverse complement sequence

CCATTCATCAGTTTTCCGTCACCCTCCTGTGTTGCGCAAAAGAACTCGCCGGCAAGGAAAAACCTTCGACCACCGCTGGATTCTGCTGCACGTCACCACT[C/T]
GCCCGACGCGGTACTGTCTTCTTCCACCGTCGACTTGTGGTGCTCGCCAGAACTCGCCGGCGACCACACGACTACGGCTAACACCGGCTTCTGCTCAGCG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 77.50% 0.30% 0.66% 21.56% NA
All Indica  2759 62.70% 0.50% 1.12% 35.70% NA
All Japonica  1512 98.80% 0.10% 0.00% 1.12% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 87.70% 0.70% 0.84% 10.76% NA
Indica II  465 48.40% 1.10% 1.29% 49.25% NA
Indica III  913 51.40% 0.10% 1.10% 47.43% NA
Indica Intermediate  786 65.30% 0.50% 1.27% 32.95% NA
Temperate Japonica  767 99.20% 0.00% 0.00% 0.78% NA
Tropical Japonica  504 98.20% 0.20% 0.00% 1.59% NA
Japonica Intermediate  241 98.80% 0.00% 0.00% 1.24% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 83.30% 0.00% 0.00% 16.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0702848923 G -> DEL LOC_Os07g05910.1 N frameshift_variant Average:78.659; most accessible tissue: Minghui63 flag leaf, score: 94.399 N N N N
vg0702848923 G -> A LOC_Os07g05910.1 missense_variant ; p.Glu109Lys; MODERATE nonsynonymous_codon ; E109K Average:78.659; most accessible tissue: Minghui63 flag leaf, score: 94.399 unknown unknown DELETERIOUS 0.04

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)
vg0702848923 G A -0.04 -0.03 -0.04 -0.03 -0.04 -0.04