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Detailed information for vg1200761417:

Variant ID: vg1200761417 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 761417
Reference Allele: CTAlternative Allele: C
Primary Allele: CTSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGGCGTCCCCGGCAAATGCGGCGTCAACGTTGGCTTCCCCATCAGCCTCTCCACCGACTGCAACAAGTATATCATCTCTCTTTATTATGACGTCCCCCCC[CT/C]
CTCTCTCTATATATATACACACATATATCTCTTTATTTTTTAGTGCTATCTAAATACTCCTCCGTTTCAGGTTATATGACGTTTTAACTTTGGTTAAAGT

Reverse complement sequence

ACTTTAACCAAAGTTAAAACGTCATATAACCTGAAACGGAGGAGTATTTAGATAGCACTAAAAAATAAAGAGATATATGTGTGTATATATATAGAGAGAG[AG/G]
GGGGGGGACGTCATAATAAAGAGAGATGATATACTTGTTGCAGTCGGTGGAGAGGCTGATGGGGAAGCCAACGTTGACGCCGCATTTGCCGGGGACGCCG

Allele Frequencies:

Populations Population SizeFrequency of CT(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 84.50% 0.10% 7.55% 7.81% NA
All Indica  2759 75.80% 0.20% 11.96% 12.03% NA
All Japonica  1512 98.50% 0.00% 0.60% 0.93% NA
Aus  269 90.30% 0.40% 2.97% 6.32% NA
Indica I  595 97.50% 0.20% 1.01% 1.34% NA
Indica II  465 52.70% 0.00% 29.03% 18.28% NA
Indica III  913 76.10% 0.30% 9.31% 14.24% NA
Indica Intermediate  786 72.80% 0.10% 13.23% 13.87% NA
Temperate Japonica  767 98.40% 0.00% 0.52% 1.04% NA
Tropical Japonica  504 98.20% 0.00% 0.79% 0.99% NA
Japonica Intermediate  241 99.20% 0.00% 0.41% 0.41% NA
VI/Aromatic  96 97.90% 0.00% 1.04% 1.04% NA
Intermediate  90 84.40% 0.00% 10.00% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1200761417 CT -> C LOC_Os12g02350.1 upstream_gene_variant ; 2373.0bp to feature; MODIFIER silent_mutation Average:63.178; most accessible tissue: Zhenshan97 flower, score: 94.124 N N N N
vg1200761417 CT -> C LOC_Os12g02340.1 intron_variant ; MODIFIER silent_mutation Average:63.178; most accessible tissue: Zhenshan97 flower, score: 94.124 N N N N
vg1200761417 CT -> C LOC_Os12g02340.2 intron_variant ; MODIFIER silent_mutation Average:63.178; most accessible tissue: Zhenshan97 flower, score: 94.124 N N N N
vg1200761417 CT -> DEL N N silent_mutation Average:63.178; most accessible tissue: Zhenshan97 flower, score: 94.124 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)
vg1200761417 CT C 0.03 -0.03 -0.02 -0.01 -0.02 -0.11