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Detailed information for vg0221002183:

Variant ID: vg0221002183 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 21002183
Reference Allele: TAAlternative Allele: T
Primary Allele: TSecondary Allele: TA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCGATCAGCCAACATCGCAAGTATCCATATAATATGCTTATAACAATTTAGAAAAACTTCCTTCGGGTGTGTAGCGGCCGGGATATTTTATTCCATTTTC[TA/T]
AAAATTTACAAGTTCTGCAACTGGTCCAAGCCTCCACTCCACATTTCTAGTCCTACAGATTTACAGAACATCAGAGATCATCCTAATGCCCTCCTTTTTC

Reverse complement sequence

GAAAAAGGAGGGCATTAGGATGATCTCTGATGTTCTGTAAATCTGTAGGACTAGAAATGTGGAGTGGAGGCTTGGACCAGTTGCAGAACTTGTAAATTTT[TA/A]
GAAAATGGAATAAAATATCCCGGCCGCTACACACCCGAAGGAAGTTTTTCTAAATTGTTATAAGCATATTATATGGATACTTGCGATGTTGGCTGATCGA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 66.10% 33.80% 0.08% 0.00% NA
All Indica  2759 98.40% 1.40% 0.11% 0.00% NA
All Japonica  1512 6.30% 93.60% 0.07% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 98.80% 1.20% 0.00% 0.00% NA
Indica II  465 97.40% 2.40% 0.22% 0.00% NA
Indica III  913 98.90% 1.10% 0.00% 0.00% NA
Indica Intermediate  786 98.20% 1.50% 0.25% 0.00% NA
Temperate Japonica  767 6.60% 93.20% 0.13% 0.00% NA
Tropical Japonica  504 6.30% 93.70% 0.00% 0.00% NA
Japonica Intermediate  241 5.40% 94.60% 0.00% 0.00% NA
VI/Aromatic  96 3.10% 96.90% 0.00% 0.00% NA
Intermediate  90 47.80% 52.20% 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
vg0221002183 TA -> T LOC_Os02g35010.1 3_prime_UTR_variant ; 308.0bp to feature; MODIFIER silent_mutation Average:84.617; most accessible tissue: Callus, score: 93.389 N N N N
vg0221002183 TA -> T LOC_Os02g35000.1 upstream_gene_variant ; 4989.0bp to feature; MODIFIER silent_mutation Average:84.617; most accessible tissue: Callus, score: 93.389 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)
vg0221002183 TA T -0.06 -0.03 -0.02 -0.02 -0.03 -0.03