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Detailed information for vg0100924553:

Variant ID: vg0100924553 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 924553
Reference Allele: AAlternative Allele: C
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.99, C: 0.00, others allele: 0.00, population size: 277. )

Flanking Sequence (100 bp) in Reference Genome:


GGCTAAACTTCTTGTTGTTGTGCTGCTACTATCTCTTCTCATCTATGCGGCCACAGCATGGGATGCCGAGAGCTTCTTCAACTTCAAGAGTTGTCCACCA[A/C]
ATCAGTGCAGCAAACATGGACCAAAAGTCCGGTTCCCACTCCGCCTTGCATCACAATCTCCGTCGTGCGGCACACCTCTCATGGAGTTATCATGTTCTGG

Reverse complement sequence

CCAGAACATGATAACTCCATGAGAGGTGTGCCGCACGACGGAGATTGTGATGCAAGGCGGAGTGGGAACCGGACTTTTGGTCCATGTTTGCTGCACTGAT[T/G]
TGGTGGACAACTCTTGAAGTTGAAGAAGCTCTCGGCATCCCATGCTGTGGCCGCATAGATGAGAAGAGATAGTAGCAGCACAACAACAAGAAGTTTAGCC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 63.00% 1.00% 3.53% 32.50% NA
All Indica  2759 71.90% 1.00% 3.81% 23.27% NA
All Japonica  1512 49.70% 1.10% 3.17% 46.10% NA
Aus  269 54.30% 0.00% 4.09% 41.64% NA
Indica I  595 45.70% 3.20% 14.29% 36.81% NA
Indica II  465 94.40% 0.00% 0.22% 5.38% NA
Indica III  913 72.50% 0.10% 0.00% 27.38% NA
Indica Intermediate  786 77.70% 1.00% 2.42% 18.83% NA
Temperate Japonica  767 72.50% 1.40% 2.22% 23.86% NA
Tropical Japonica  504 12.50% 0.20% 4.96% 82.34% NA
Japonica Intermediate  241 54.80% 1.70% 2.49% 41.08% NA
VI/Aromatic  96 37.50% 0.00% 0.00% 62.50% NA
Intermediate  90 67.80% 1.10% 3.33% 27.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0100924553 A -> DEL LOC_Os01g02710.1 N frameshift_variant Average:80.778; most accessible tissue: Zhenshan97 flag leaf, score: 97.373 N N N N
vg0100924553 A -> C LOC_Os01g02710.1 missense_variant ; p.Asn35His; MODERATE nonsynonymous_codon Average:80.778; most accessible tissue: Zhenshan97 flag leaf, score: 97.373 benign 0.528 TOLERATED 0.94

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)
vg0100924553 A C 0.04 0.05 0.03 0.04 0.04 0.03