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Detailed information for vg1200354503:

Variant ID: vg1200354503 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 354503
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 313. )

Flanking Sequence (100 bp) in Reference Genome:


ATAGTTTATCAGTTATAGCTGCAGCATCCTAATCACATTAGTATTTTTCTTGTTTCAGTTATTTGCGGGAGCTATCTCATCAGCAGTACTGCTTGTGGCC[G/A]
CTCCTAAGTTTGGTCTTGGTGGCGTCTGGGCTGGCCTTACTCTATTTATGAGTTTGCGAGCAATTGCTGGGTTCTGGAGGTAGTAATGGATGATTGCTTA

Reverse complement sequence

TAAGCAATCATCCATTACTACCTCCAGAACCCAGCAATTGCTCGCAAACTCATAAATAGAGTAAGGCCAGCCCAGACGCCACCAAGACCAAACTTAGGAG[C/T]
GGCCACAAGCAGTACTGCTGATGAGATAGCTCCCGCAAATAACTGAAACAAGAAAAATACTAATGTGATTAGGATGCTGCAGCTATAACTGATAAACTAT

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 95.80% 4.20% 0.00% 0.00% NA
All Indica  2759 97.50% 2.50% 0.00% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 53.90% 46.10% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 97.70% 2.30% 0.00% 0.00% NA
Indica Intermediate  786 94.10% 5.90% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 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
vg1200354503 G -> A LOC_Os12g01580.1 missense_variant ; p.Ala508Thr; MODERATE nonsynonymous_codon ; A508T Average:79.048; most accessible tissue: Minghui63 flower, score: 87.958 benign 0.611 TOLERATED 0.09
vg1200354503 G -> A LOC_Os12g01580.2 missense_variant ; p.Ala297Thr; MODERATE nonsynonymous_codon ; A297T Average:79.048; most accessible tissue: Minghui63 flower, score: 87.958 benign 0.611 TOLERATED 0.12

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)
vg1200354503 G A -0.02 -0.01 -0.01 -0.02 0.0 0.0