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Detailed information for vg0620020790:

Variant ID: vg0620020790 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 20020790
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCACCGTGGCGGGCGCCGTCGCCGTCGCGGTCGCGCTCCTCCTGCTGGCGCTCGCCGGCAGGCTGGCGCAGACGACGGGAGGAGGCTCCGCCGCGGCGG[C/A]
GGCGTCGGGGCGGCGGCGGCGGCTGCTGAGCTGCCCGTGCGCGTGCGGGCTGATGGCGCCCGGCGCGGGGGGGATCGGCGTGCTGCCGGCGTTCGCGTAC

Reverse complement sequence

GTACGCGAACGCCGGCAGCACGCCGATCCCCCCCGCGCCGGGCGCCATCAGCCCGCACGCGCACGGGCAGCTCAGCAGCCGCCGCCGCCGCCCCGACGCC[G/T]
CCGCCGCGGCGGAGCCTCCTCCCGTCGTCTGCGCCAGCCTGCCGGCGAGCGCCAGCAGGAGGAGCGCGACCGCGACGGCGACGGCGCCCGCCACGGTGGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 67.90% 9.00% 11.96% 11.15% NA
All Indica  2759 79.60% 3.00% 7.07% 10.26% NA
All Japonica  1512 59.60% 1.40% 23.41% 15.61% NA
Aus  269 1.10% 98.50% 0.37% 0.00% NA
Indica I  595 70.60% 0.00% 14.45% 14.96% NA
Indica II  465 64.90% 2.40% 9.68% 23.01% NA
Indica III  913 96.80% 2.20% 0.66% 0.33% NA
Indica Intermediate  786 75.20% 6.70% 7.38% 10.69% NA
Temperate Japonica  767 43.40% 0.00% 34.16% 22.43% NA
Tropical Japonica  504 75.60% 4.00% 10.52% 9.92% NA
Japonica Intermediate  241 77.60% 0.40% 16.18% 5.81% NA
VI/Aromatic  96 45.80% 52.10% 1.04% 1.04% NA
Intermediate  90 68.90% 7.80% 15.56% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0620020790 C -> A LOC_Os06g34400.1 missense_variant ; p.Ala314Glu; MODERATE nonsynonymous_codon ; A314E Average:90.147; most accessible tissue: Minghui63 panicle, score: 98.021 unknown unknown DELETERIOUS 0.01
vg0620020790 C -> DEL LOC_Os06g34400.1 N frameshift_variant Average:90.147; most accessible tissue: Minghui63 panicle, score: 98.021 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)
vg0620020790 C A -0.02 -0.04 -0.04 -0.02 -0.02 -0.01