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Detailed information for vg1213444684:

Variant ID: vg1213444684 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 13444684
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.96, A: 0.03, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


GTGGCCTCGCACGCGCACGCACACGCCATGGAGCGCTACGAGTGTCTCGGCAAGATCGGGGAGGGCGCCGCCGGCGTGGTGCACGTGGCGCGGGACCGGA[C/A]
GACAGGGGAGACCGTCGCCGTGAAGCGCCTCCACGGAGGGATCGGCTGCGGCGAGGAGGAGTGGCTCCGGGAGGCGCGGTGCCTGCAGGCGTGCCGCGGC

Reverse complement sequence

GCCGCGGCACGCCTGCAGGCACCGCGCCTCCCGGAGCCACTCCTCCTCGCCGCAGCCGATCCCTCCGTGGAGGCGCTTCACGGCGACGGTCTCCCCTGTC[G/T]
TCCGGTCCCGCGCCACGTGCACCACGCCGGCGGCGCCCTCCCCGATCTTGCCGAGACACTCGTAGCGCTCCATGGCGTGTGCGTGCGCGTGCGAGGCCAC

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 78.10% 21.90% 0.02% 0.00% NA
All Indica  2759 64.00% 36.00% 0.04% 0.00% NA
All Japonica  1512 99.10% 0.90% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 60.80% 39.20% 0.00% 0.00% NA
Indica II  465 77.20% 22.80% 0.00% 0.00% NA
Indica III  913 54.50% 45.30% 0.11% 0.00% NA
Indica Intermediate  786 69.50% 30.50% 0.00% 0.00% NA
Temperate Japonica  767 99.00% 1.00% 0.00% 0.00% NA
Tropical Japonica  504 98.80% 1.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 85.40% 14.60% 0.00% 0.00% NA
Intermediate  90 86.70% 13.30% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1213444684 C -> A LOC_Os12g23700.1 missense_variant ; p.Thr25Lys; MODERATE nonsynonymous_codon ; T25K Average:96.152; most accessible tissue: Zhenshan97 root, score: 99.132 unknown unknown TOLERATED 0.98

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)
vg1213444684 C A 0.0 0.0 0.0 -0.01 -0.01 -0.01