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Detailed information for vg1223000624:

Variant ID: vg1223000624 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23000624
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.90, T: 0.10, others allele: 0.00, population size: 78. )

Flanking Sequence (100 bp) in Reference Genome:


GCTTCGCCAGCGCCGGCGTCCTCGCGTCCGCGGCGAGCGCCCCCGCCGCCTTCTTCGCCGCCGCCGCCTTGGCGCGCACCGCGCCCATCGCCAGCCGCAG[C/T]
ACCGCCGTGGCGTCCAGCTTCGCCGCCGCCCCCGCCGCCGGCGGCGGCACCACCGTCATCTGGCACACCACCGGGTAGTCCGTCTTCGCGCACAGCGCCT

Reverse complement sequence

AGGCGCTGTGCGCGAAGACGGACTACCCGGTGGTGTGCCAGATGACGGTGGTGCCGCCGCCGGCGGCGGGGGCGGCGGCGAAGCTGGACGCCACGGCGGT[G/A]
CTGCGGCTGGCGATGGGCGCGGTGCGCGCCAAGGCGGCGGCGGCGAAGAAGGCGGCGGGGGCGCTCGCCGCGGACGCGAGGACGCCGGCGCTGGCGAAGC

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 52.50% 27.90% 10.60% 9.06% NA
All Indica  2759 47.70% 41.40% 7.65% 3.26% NA
All Japonica  1512 63.80% 0.30% 15.74% 20.17% NA
Aus  269 32.00% 56.90% 5.58% 5.58% NA
Indica I  595 37.30% 32.60% 16.47% 13.61% NA
Indica II  465 39.80% 44.70% 15.27% 0.22% NA
Indica III  913 58.40% 40.20% 1.31% 0.11% NA
Indica Intermediate  786 48.00% 47.30% 3.82% 0.89% NA
Temperate Japonica  767 41.70% 0.30% 23.99% 34.03% NA
Tropical Japonica  504 90.90% 0.40% 5.16% 3.57% NA
Japonica Intermediate  241 77.20% 0.40% 11.62% 10.79% NA
VI/Aromatic  96 58.30% 8.30% 22.92% 10.42% NA
Intermediate  90 62.20% 12.20% 16.67% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223000624 C -> DEL LOC_Os12g37480.1 N frameshift_variant Average:80.689; most accessible tissue: Minghui63 panicle, score: 93.521 N N N N
vg1223000624 C -> T LOC_Os12g37480.1 synonymous_variant ; p.Val110Val; LOW synonymous_codon Average:80.689; most accessible tissue: Minghui63 panicle, score: 93.521 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)
vg1223000624 C T 0.01 0.01 0.01 0.0 0.0 0.02