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Detailed information for vg0207046035:

Variant ID: vg0207046035 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 7046035
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCTCCCGCTACCCGACGACGACGACGACGGGCTCTGCGCCGTGCGCACGCCGCCGCTGACCGCCGCGCGGCAGGGCGCGGCGATCCGGCTCGGCCTCAGC[A/C]
GCCGCCGCTGCTGGCCGGCGCAGGTAGATGCCAAGAAGAGGCGGTGGTGAGCCTGGACGGCCGCCATGGATGGACCGAGTGACGACAGAGTGATCACCGA

Reverse complement sequence

TCGGTGATCACTCTGTCGTCACTCGGTCCATCCATGGCGGCCGTCCAGGCTCACCACCGCCTCTTCTTGGCATCTACCTGCGCCGGCCAGCAGCGGCGGC[T/G]
GCTGAGGCCGAGCCGGATCGCCGCGCCCTGCCGCGCGGCGGTCAGCGGCGGCGTGCGCACGGCGCAGAGCCCGTCGTCGTCGTCGTCGGGTAGCGGGAGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.70% 21.10% 0.17% 0.00% NA
All Indica  2759 93.90% 5.90% 0.14% 0.00% NA
All Japonica  1512 61.90% 38.00% 0.13% 0.00% NA
Aus  269 32.70% 66.90% 0.37% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 85.80% 13.80% 0.43% 0.00% NA
Indica III  913 96.70% 3.30% 0.00% 0.00% NA
Indica Intermediate  786 91.00% 8.80% 0.25% 0.00% NA
Temperate Japonica  767 31.90% 67.90% 0.13% 0.00% NA
Tropical Japonica  504 96.40% 3.60% 0.00% 0.00% NA
Japonica Intermediate  241 85.10% 14.50% 0.41% 0.00% NA
VI/Aromatic  96 36.50% 63.50% 0.00% 0.00% NA
Intermediate  90 78.90% 20.00% 1.11% 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
vg0207046035 A -> C LOC_Os02g13220.1 missense_variant ; p.Leu23Arg; MODERATE nonsynonymous_codon ; L23R Average:93.587; most accessible tissue: Zhenshan97 flower, score: 96.588 benign -1 TOLERATED 0.43

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)
vg0207046035 A C 0.02 0.01 0.03 0.08 0.04 0.04