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Detailed information for vg0620098852:

Variant ID: vg0620098852 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 20098852
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.65, T: 0.33, others allele: 0.00, population size: 49. )

Flanking Sequence (100 bp) in Reference Genome:


CCCGATCTGACCGGGCTCCTCCTCCTCGTCTCCTGCTCTCTTCACCGCCGCAGACCAGGTCAGCAGTTGAGCACCATGGCAAGAAAGTTGAGAGGTCAGG[C/T]
GGCCAGCAGCGGCACGTACGTACCTCGCGCCCAGCACAGCCGCGCAGTCGCAGATCGAGCAGATGTGGTCAGACTCAGAGCTGGACATGTGCGCAACGCT

Reverse complement sequence

AGCGTTGCGCACATGTCCAGCTCTGAGTCTGACCACATCTGCTCGATCTGCGACTGCGCGGCTGTGCTGGGCGCGAGGTACGTACGTGCCGCTGCTGGCC[G/A]
CCTGACCTCTCAACTTTCTTGCCATGGTGCTCAACTGCTGACCTGGTCTGCGGCGGTGAAGAGAGCAGGAGACGAGGAGGAGGAGCCCGGTCAGATCGGG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 47.40% 44.60% 0.19% 7.87% NA
All Indica  2759 77.90% 21.00% 0.25% 0.83% NA
All Japonica  1512 2.70% 76.80% 0.07% 20.44% NA
Aus  269 1.50% 98.50% 0.00% 0.00% NA
Indica I  595 80.80% 19.00% 0.17% 0.00% NA
Indica II  465 77.80% 20.20% 0.43% 1.51% NA
Indica III  913 77.10% 21.60% 0.22% 1.10% NA
Indica Intermediate  786 76.60% 22.40% 0.25% 0.76% NA
Temperate Japonica  767 2.10% 87.10% 0.13% 10.69% NA
Tropical Japonica  504 3.40% 74.80% 0.00% 21.83% NA
Japonica Intermediate  241 3.30% 48.10% 0.00% 48.55% NA
VI/Aromatic  96 14.60% 54.20% 0.00% 31.25% NA
Intermediate  90 34.40% 53.30% 1.11% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0620098852 C -> T LOC_Os06g34560.1 missense_variant ; p.Ala40Val; MODERATE nonsynonymous_codon ; A40V Average:94.545; most accessible tissue: Zhenshan97 root, score: 98.164 unknown unknown DELETERIOUS 0.00
vg0620098852 C -> DEL LOC_Os06g34560.1 N frameshift_variant Average:94.545; most accessible tissue: Zhenshan97 root, score: 98.164 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)
vg0620098852 C T 0.04 0.05 0.02 0.04 0.04 0.03