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Detailed information for vg0220720577:

Variant ID: vg0220720577 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 20720577
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.96, T: 0.04, others allele: 0.00, population size: 45. )

Flanking Sequence (100 bp) in Reference Genome:


ATTAGTGATGTTACTGTCAGCAAAAATCAGACCAGATGCTTCCGTTATAATAGAAATGTTAATTATAGTTTATACACTTGTGAGTTTGAAACATGTTTTT[A/T]
TAAAAAAAAAAAACTTGAGCGCCACAGTAAAGTTTACCATTCTGCGATCTATCATGCAGCAACCGTCTGCACACAGCAATGTTGGGAAGGTATCAAACCC

Reverse complement sequence

GGGTTTGATACCTTCCCAACATTGCTGTGTGCAGACGGTTGCTGCATGATAGATCGCAGAATGGTAAACTTTACTGTGGCGCTCAAGTTTTTTTTTTTTA[T/A]
AAAAACATGTTTCAAACTCACAAGTGTATAAACTATAATTAACATTTCTATTATAACGGAAGCATCTGGTCTGATTTTTGCTGACAGTAACATCACTAAT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.80% 15.60% 2.33% 12.34% NA
All Indica  2759 57.20% 18.30% 3.55% 20.91% NA
All Japonica  1512 99.10% 0.80% 0.00% 0.07% NA
Aus  269 20.80% 76.20% 2.97% 0.00% NA
Indica I  595 84.50% 3.00% 1.01% 11.43% NA
Indica II  465 47.30% 29.20% 2.37% 21.08% NA
Indica III  913 44.50% 20.60% 6.68% 28.26% NA
Indica Intermediate  786 57.30% 20.70% 2.54% 19.47% NA
Temperate Japonica  767 99.50% 0.50% 0.00% 0.00% NA
Tropical Japonica  504 98.60% 1.40% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.40% 0.00% 0.41% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 80.00% 10.00% 4.44% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0220720577 A -> T LOC_Os02g34560.1 intron_variant ; MODIFIER silent_mutation Average:80.796; most accessible tissue: Minghui63 young leaf, score: 92.217 N N N N
vg0220720577 A -> T LOC_Os02g34560.2 intron_variant ; MODIFIER silent_mutation Average:80.796; most accessible tissue: Minghui63 young leaf, score: 92.217 N N N N
vg0220720577 A -> DEL N N silent_mutation Average:80.796; most accessible tissue: Minghui63 young leaf, score: 92.217 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)
vg0220720577 A T -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0220720577 NA 3.93E-06 mr1174 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 3.61E-12 mr1233 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 1.80E-11 mr1281 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 1.10E-06 mr1321 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 7.40E-10 mr1342 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 7.68E-08 mr1347 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 1.21E-14 mr1592 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 1.04E-10 mr1720 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 1.39E-06 mr1748 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 1.84E-06 7.05E-06 mr1772 Ind_All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0220720577 NA 7.99E-06 mr1341_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251