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Detailed information for vg1213445085:

Variant ID: vg1213445085 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 13445085
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCACGCGGCGGGGGTCATGCACCGGGACCTCAAGCCGGACAACGTCGTCGTCGGCCCCCGCGGCGACCTCAAGATCTGCGACTTCGGCATGTCGCGGGTC[A/G]
CCGCGGCCGGCGCGCCGCCGTACACGTCGCCCGTCGTCACGCTGTGGTACCGCGCGCCGGAGCTCATTCTGGGGTCGCAGGAGTACGACTCCCTCGTCGA

Reverse complement sequence

TCGACGAGGGAGTCGTACTCCTGCGACCCCAGAATGAGCTCCGGCGCGCGGTACCACAGCGTGACGACGGGCGACGTGTACGGCGGCGCGCCGGCCGCGG[T/C]
GACCCGCGACATGCCGAAGTCGCAGATCTTGAGGTCGCCGCGGGGGCCGACGACGACGTTGTCCGGCTTGAGGTCCCGGTGCATGACCCCCGCCGCGTGC

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 84.30% 14.40% 0.76% 0.57% NA
All Indica  2759 97.50% 1.10% 0.47% 0.91% NA
All Japonica  1512 57.00% 41.50% 1.39% 0.13% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.70% 0.20% 0.00% 0.17% NA
Indica II  465 91.40% 2.80% 1.29% 4.52% NA
Indica III  913 99.50% 0.40% 0.11% 0.00% NA
Indica Intermediate  786 97.20% 1.70% 0.76% 0.38% NA
Temperate Japonica  767 22.70% 74.60% 2.48% 0.26% NA
Tropical Japonica  504 99.40% 0.20% 0.40% 0.00% NA
Japonica Intermediate  241 77.60% 22.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 74.40% 23.30% 2.22% 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
vg1213445085 A -> DEL LOC_Os12g23700.1 N frameshift_variant Average:87.875; most accessible tissue: Zhenshan97 root, score: 95.543 N N N N
vg1213445085 A -> G LOC_Os12g23700.1 missense_variant ; p.Thr159Ala; MODERATE nonsynonymous_codon ; T159A Average:87.875; most accessible tissue: Zhenshan97 root, score: 95.543 benign -0.101 TOLERATED 0.91

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)
vg1213445085 A G 0.01 0.0 0.01 0.0 -0.01 0.0