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Detailed information for vg0208018622:

Variant ID: vg0208018622 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 8018622
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGTCGAGTTCCACCCGCAGTGCGACACGAACGCCGCCGTCGCCGGGTGCGCCAGCACGCGCACCTGCGGCGCCCACGACGCCACGGCGAGGCCCCGCCCG[C/T]
TCGTCCTCTCCACGAAGCCCTCGGGGAGGAAGTTCATCGGGTTGCTGTGGCCGGCGCCCATGGAGTAAGGCAGCCTGCCCGTGCTCGGCATGCGCACCAC

Reverse complement sequence

GTGGTGCGCATGCCGAGCACGGGCAGGCTGCCTTACTCCATGGGCGCCGGCCACAGCAACCCGATGAACTTCCTCCCCGAGGGCTTCGTGGAGAGGACGA[G/A]
CGGGCGGGGCCTCGCCGTGGCGTCGTGGGCGCCGCAGGTGCGCGTGCTGGCGCACCCGGCGACGGCGGCGTTCGTGTCGCACTGCGGGTGGAACTCGACG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.20% 0.10% 12.57% 6.18% NA
All Indica  2759 70.60% 0.10% 19.64% 9.60% NA
All Japonica  1512 99.30% 0.00% 0.46% 0.26% NA
Aus  269 83.30% 0.40% 9.67% 6.69% NA
Indica I  595 59.20% 0.00% 30.92% 9.92% NA
Indica II  465 70.50% 0.00% 20.00% 9.46% NA
Indica III  913 80.10% 0.10% 10.73% 9.09% NA
Indica Intermediate  786 68.40% 0.30% 21.25% 10.05% NA
Temperate Japonica  767 99.30% 0.00% 0.39% 0.26% NA
Tropical Japonica  504 99.00% 0.00% 0.79% 0.20% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 88.50% 0.00% 8.33% 3.12% NA
Intermediate  90 85.60% 0.00% 12.22% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0208018622 C -> T LOC_Os02g14540.1 missense_variant ; p.Ser245Asn; MODERATE nonsynonymous_codon ; S245N Average:86.686; most accessible tissue: Minghui63 flag leaf, score: 94.88 benign 0.043 TOLERATED 0.09
vg0208018622 C -> DEL LOC_Os02g14540.1 N frameshift_variant Average:86.686; most accessible tissue: Minghui63 flag leaf, score: 94.88 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)
vg0208018622 C T -0.01 -0.02 -0.02 -0.02 -0.02 -0.02