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Detailed information for vg0105287209:

Variant ID: vg0105287209 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 5287209
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, T: 0.01, others allele: 0.00, population size: 209. )

Flanking Sequence (100 bp) in Reference Genome:


GCTGTCGTTAGCTAAATCTAGCTGGATTGTATTGCTAGCTCACTCTTTGTCACTCAGCTTGCCCGTCTTTGTCTAACCTGGCTAAGGCCCTGTCTAGATT[C/T]
CAACTTTTTTCCTCAAACTTCTAACATTTTCGTCACATCGAACTTTTCTGCACATACAAACTTTTAACTTTTCCGTCACATCGTTTCAAATTCTTTAGAC

Reverse complement sequence

GTCTAAAGAATTTGAAACGATGTGACGGAAAAGTTAAAAGTTTGTATGTGCAGAAAAGTTCGATGTGACGAAAATGTTAGAAGTTTGAGGAAAAAAGTTG[G/A]
AATCTAGACAGGGCCTTAGCCAGGTTAGACAAAGACGGGCAAGCTGAGTGACAAAGAGTGAGCTAGCAATACAATCCAGCTAGATTTAGCTAACGACAGC

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 55.40% 44.50% 0.02% 0.02% NA
All Indica  2759 33.50% 66.40% 0.00% 0.04% NA
All Japonica  1512 97.90% 2.10% 0.00% 0.00% NA
Aus  269 24.90% 75.10% 0.00% 0.00% NA
Indica I  595 7.20% 92.80% 0.00% 0.00% NA
Indica II  465 32.30% 67.70% 0.00% 0.00% NA
Indica III  913 57.20% 42.80% 0.00% 0.00% NA
Indica Intermediate  786 26.70% 73.20% 0.00% 0.13% NA
Temperate Japonica  767 98.60% 1.40% 0.00% 0.00% NA
Tropical Japonica  504 96.60% 3.40% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 93.80% 6.20% 0.00% 0.00% NA
Intermediate  90 63.30% 35.60% 1.11% 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
vg0105287209 C -> T LOC_Os01g10130.1 downstream_gene_variant ; 926.0bp to feature; MODIFIER silent_mutation Average:88.099; most accessible tissue: Minghui63 young leaf, score: 95.434 N N N N
vg0105287209 C -> T LOC_Os01g10120-LOC_Os01g10130 intergenic_region ; MODIFIER silent_mutation Average:88.099; most accessible tissue: Minghui63 young leaf, score: 95.434 N N N N
vg0105287209 C -> DEL N N silent_mutation Average:88.099; most accessible tissue: Minghui63 young leaf, score: 95.434 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)
vg0105287209 C T -0.04 -0.05 -0.06 -0.08 -0.07 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0105287209 NA 2.25E-08 mr1498 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
vg0105287209 NA 3.47E-11 mr1498 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
vg0105287209 NA 3.15E-10 mr1769 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
vg0105287209 NA 8.31E-10 mr1881 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
vg0105287209 NA 1.49E-06 mr1881 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
vg0105287209 NA 1.65E-11 mr1904 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
vg0105287209 NA 5.44E-07 mr1951 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
vg0105287209 1.74E-06 1.06E-11 mr1951 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
vg0105287209 NA 2.24E-08 mr1498_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
vg0105287209 NA 4.40E-11 mr1769_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