Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg0310279483:

Variant ID: vg0310279483 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 10279483
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.96, C: 0.04, others allele: 0.00, population size: 112. )

Flanking Sequence (100 bp) in Reference Genome:


GCAGACGATTGTGTAGATCATCGAACAGAATATAGCTACTCCCTCCGTCCCAAAATAAGTGCAGTTTTGCACTATTCACGTTCAACGTTTGACCGTTCGT[T/C]
TTATTTGAAAATTTTTTATGATTAGTATTTTTATTACTATTAGATGATAAAACATGAATAGTATTTTATGTGTGACTAAATATTTTCAAATTTTCACAAA

Reverse complement sequence

TTTGTGAAAATTTGAAAATATTTAGTCACACATAAAATACTATTCATGTTTTATCATCTAATAGTAATAAAAATACTAATCATAAAAAATTTTCAAATAA[A/G]
ACGAACGGTCAAACGTTGAACGTGAATAGTGCAAAACTGCACTTATTTTGGGACGGAGGGAGTAGCTATATTCTGTTCGATGATCTACACAATCGTCTGC

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 54.80% 31.90% 0.51% 12.72% NA
All Indica  2759 82.50% 0.70% 0.69% 16.09% NA
All Japonica  1512 2.10% 94.60% 0.00% 3.37% NA
Aus  269 88.50% 4.50% 0.37% 6.69% NA
Indica I  595 85.90% 1.00% 0.17% 12.94% NA
Indica II  465 95.30% 0.40% 0.65% 3.66% NA
Indica III  913 71.10% 0.20% 0.77% 27.93% NA
Indica Intermediate  786 85.60% 1.30% 1.02% 12.09% NA
Temperate Japonica  767 0.90% 99.00% 0.00% 0.13% NA
Tropical Japonica  504 2.20% 88.90% 0.00% 8.93% NA
Japonica Intermediate  241 5.40% 92.50% 0.00% 2.07% NA
VI/Aromatic  96 7.30% 7.30% 4.17% 81.25% NA
Intermediate  90 44.40% 44.40% 0.00% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0310279483 T -> C LOC_Os03g18330.1 downstream_gene_variant ; 3963.0bp to feature; MODIFIER silent_mutation Average:65.053; most accessible tissue: Zhenshan97 flower, score: 83.283 N N N N
vg0310279483 T -> C LOC_Os03g18340.1 downstream_gene_variant ; 1674.0bp to feature; MODIFIER silent_mutation Average:65.053; most accessible tissue: Zhenshan97 flower, score: 83.283 N N N N
vg0310279483 T -> C LOC_Os03g18350.1 downstream_gene_variant ; 258.0bp to feature; MODIFIER silent_mutation Average:65.053; most accessible tissue: Zhenshan97 flower, score: 83.283 N N N N
vg0310279483 T -> C LOC_Os03g18340-LOC_Os03g18350 intergenic_region ; MODIFIER silent_mutation Average:65.053; most accessible tissue: Zhenshan97 flower, score: 83.283 N N N N
vg0310279483 T -> DEL N N silent_mutation Average:65.053; most accessible tissue: Zhenshan97 flower, score: 83.283 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)
vg0310279483 T C 0.01 0.0 0.0 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0310279483 NA 4.89E-10 mr1307 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
vg0310279483 NA 8.00E-11 mr1514 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
vg0310279483 NA 7.36E-06 mr1898 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