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Detailed information for vg0208018524:

Variant ID: vg0208018524 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 8018524
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCACCCCGGCTACCTCCGTCAGGATGACCGTGTTCATCTTCTGCTCGGCGTACAGCGGCCACGCGATCATCGGCACGCCGGAGGACACGCTCTCCAGCG[T/C]
CGAGTTCCACCCGCAGTGCGACACGAACGCCGCCGTCGCCGGGTGCGCCAGCACGCGCACCTGCGGCGCCCACGACGCCACGGCGAGGCCCCGCCCGCTC

Reverse complement sequence

GAGCGGGCGGGGCCTCGCCGTGGCGTCGTGGGCGCCGCAGGTGCGCGTGCTGGCGCACCCGGCGACGGCGGCGTTCGTGTCGCACTGCGGGTGGAACTCG[A/G]
CGCTGGAGAGCGTGTCCTCCGGCGTGCCGATGATCGCGTGGCCGCTGTACGCCGAGCAGAAGATGAACACGGTCATCCTGACGGAGGTAGCCGGGGTGGC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.30% 0.30% 6.33% 24.14% NA
All Indica  2759 53.30% 0.30% 9.68% 36.75% NA
All Japonica  1512 98.90% 0.00% 0.40% 0.66% NA
Aus  269 65.40% 1.10% 1.86% 31.60% NA
Indica I  595 51.10% 0.20% 11.26% 37.48% NA
Indica II  465 50.80% 0.20% 9.89% 39.14% NA
Indica III  913 56.10% 0.40% 7.67% 35.82% NA
Indica Intermediate  786 53.20% 0.30% 10.69% 35.88% NA
Temperate Japonica  767 99.20% 0.00% 0.26% 0.52% NA
Tropical Japonica  504 98.80% 0.00% 0.60% 0.60% NA
Japonica Intermediate  241 98.30% 0.00% 0.41% 1.24% NA
VI/Aromatic  96 68.80% 1.00% 13.54% 16.67% NA
Intermediate  90 73.30% 0.00% 8.89% 17.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0208018524 T -> DEL LOC_Os02g14540.1 N frameshift_variant Average:88.081; most accessible tissue: Zhenshan97 young leaf, score: 94.82 N N N N
vg0208018524 T -> C LOC_Os02g14540.1 missense_variant ; p.Thr278Ala; MODERATE nonsynonymous_codon ; T278A Average:88.081; most accessible tissue: Zhenshan97 young leaf, score: 94.82 benign -0.116 TOLERATED 0.20

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)
vg0208018524 T C 0.02 0.01 0.02 0.01 0.01 0.02