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Detailed information for vg1213445089:

Variant ID: vg1213445089 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 13445089
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGGCGGGGGTCATGCACCGGGACCTCAAGCCGGACAACGTCGTCGTCGGCCCCCGCGGCGACCTCAAGATCTGCGACTTCGGCATGTCGCGGGTCACCG[C/A]
GGCCGGCGCGCCGCCGTACACGTCGCCCGTCGTCACGCTGTGGTACCGCGCGCCGGAGCTCATTCTGGGGTCGCAGGAGTACGACTCCCTCGTCGACACG

Reverse complement sequence

CGTGTCGACGAGGGAGTCGTACTCCTGCGACCCCAGAATGAGCTCCGGCGCGCGGTACCACAGCGTGACGACGGGCGACGTGTACGGCGGCGCGCCGGCC[G/T]
CGGTGACCCGCGACATGCCGAAGTCGCAGATCTTGAGGTCGCCGCGGGGGCCGACGACGACGTTGTCCGGCTTGAGGTCCCGGTGCATGACCCCCGCCGC

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 79.20% 20.30% 0.23% 0.30% NA
All Indica  2759 82.70% 17.20% 0.04% 0.00% NA
All Japonica  1512 86.50% 12.10% 0.53% 0.86% NA
Aus  269 20.40% 79.60% 0.00% 0.00% NA
Indica I  595 88.10% 11.90% 0.00% 0.00% NA
Indica II  465 94.20% 5.80% 0.00% 0.00% NA
Indica III  913 79.30% 20.70% 0.00% 0.00% NA
Indica Intermediate  786 76.00% 23.90% 0.13% 0.00% NA
Temperate Japonica  767 93.50% 3.90% 1.04% 1.56% NA
Tropical Japonica  504 85.50% 14.30% 0.00% 0.20% NA
Japonica Intermediate  241 66.40% 33.60% 0.00% 0.00% NA
VI/Aromatic  96 35.40% 63.50% 1.04% 0.00% NA
Intermediate  90 68.90% 28.90% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1213445089 C -> DEL LOC_Os12g23700.1 N frameshift_variant Average:87.772; most accessible tissue: Zhenshan97 root, score: 95.366 N N N N
vg1213445089 C -> A LOC_Os12g23700.1 missense_variant ; p.Ala160Glu; MODERATE nonsynonymous_codon ; A160K Average:87.772; most accessible tissue: Zhenshan97 root, score: 95.366 unknown unknown TOLERATED 0.61

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)
vg1213445089 C A -0.02 -0.01 -0.02 -0.02 -0.02 -0.02