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Detailed information for vg0433253554:

Variant ID: vg0433253554 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 33253554
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.91, T: 0.08, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


GTTTGACTATTCGTCTTATTTAAAAAATTTATGTAATTATTATTTATTTTATTATGATTTGATTCGTCATCAAATGTTCTTTAAGCATGACATAAATATT[C/T]
ATATTTACACAAAATTTTTAAATAAAACGAATGGTCAAACATTGATCGAAAAGTTAACGGCTTGATACATTAAAAAATATTGAGGGAGTACTATATCTAA

Reverse complement sequence

TTAGATATAGTACTCCCTCAATATTTTTTAATGTATCAAGCCGTTAACTTTTCGATCAATGTTTGACCATTCGTTTTATTTAAAAATTTTGTGTAAATAT[G/A]
AATATTTATGTCATGCTTAAAGAACATTTGATGACGAATCAAATCATAATAAAATAAATAATAATTACATAAATTTTTTAAATAAGACGAATAGTCAAAC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 51.80% 47.80% 0.30% 0.13% NA
All Indica  2759 73.00% 26.30% 0.43% 0.22% NA
All Japonica  1512 12.40% 87.60% 0.00% 0.00% NA
Aus  269 69.90% 30.10% 0.00% 0.00% NA
Indica I  595 91.60% 7.60% 0.84% 0.00% NA
Indica II  465 70.10% 29.50% 0.22% 0.22% NA
Indica III  913 57.40% 41.80% 0.44% 0.33% NA
Indica Intermediate  786 78.90% 20.60% 0.25% 0.25% NA
Temperate Japonica  767 9.80% 90.20% 0.00% 0.00% NA
Tropical Japonica  504 8.30% 91.70% 0.00% 0.00% NA
Japonica Intermediate  241 29.50% 70.50% 0.00% 0.00% NA
VI/Aromatic  96 16.70% 83.30% 0.00% 0.00% NA
Intermediate  90 43.30% 54.40% 2.22% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0433253554 C -> DEL N N silent_mutation Average:72.254; most accessible tissue: Zhenshan97 root, score: 92.426 N N N N
vg0433253554 C -> T LOC_Os04g55850.1 upstream_gene_variant ; 363.0bp to feature; MODIFIER silent_mutation Average:72.254; most accessible tissue: Zhenshan97 root, score: 92.426 N N N N
vg0433253554 C -> T LOC_Os04g55850.3 upstream_gene_variant ; 394.0bp to feature; MODIFIER silent_mutation Average:72.254; most accessible tissue: Zhenshan97 root, score: 92.426 N N N N
vg0433253554 C -> T LOC_Os04g55840.1 downstream_gene_variant ; 2198.0bp to feature; MODIFIER silent_mutation Average:72.254; most accessible tissue: Zhenshan97 root, score: 92.426 N N N N
vg0433253554 C -> T LOC_Os04g55840-LOC_Os04g55850 intergenic_region ; MODIFIER silent_mutation Average:72.254; most accessible tissue: Zhenshan97 root, score: 92.426 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)
vg0433253554 C T -0.01 0.01 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
vg0433253554 NA 4.55E-07 mr1220 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
vg0433253554 NA 1.11E-09 mr1302 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
vg0433253554 NA 5.33E-07 mr1315 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
vg0433253554 NA 2.45E-08 mr1392 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
vg0433253554 NA 2.15E-06 mr1418 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
vg0433253554 NA 5.51E-06 mr1681 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
vg0433253554 NA 1.28E-08 mr1776 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
vg0433253554 3.36E-06 NA mr1785 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
vg0433253554 NA 8.86E-07 mr1797 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
vg0433253554 NA 8.86E-07 mr1801 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
vg0433253554 NA 3.30E-07 mr1810 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
vg0433253554 NA 1.56E-08 mr1824 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
vg0433253554 NA 3.18E-07 mr1832 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
vg0433253554 NA 8.21E-08 mr1993_2 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