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Detailed information for vg0905539417:

Variant ID: vg0905539417 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 5539417
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.68, C: 0.32, others allele: 0.00, population size: 57. )

Flanking Sequence (100 bp) in Reference Genome:


GAGGCCCAGTAAGCCTAGGAGGCCCAGTAAGCCCAACAAATTGCAAAACCCTATAATTCCCCACTCCCACTCCAACAGTCCCACTACCTCAGCCCCTAAC[A/C]
ACTACCATCGCCGCCTCCATCCATCCCCACCCAATCCATCGCGCCGCCGTCCGCCTCGGCGCCGCCTCACGCCCCCGCCACCGTCCGGAGGCCCGACGAG

Reverse complement sequence

CTCGTCGGGCCTCCGGACGGTGGCGGGGGCGTGAGGCGGCGCCGAGGCGGACGGCGGCGCGATGGATTGGGTGGGGATGGATGGAGGCGGCGATGGTAGT[T/G]
GTTAGGGGCTGAGGTAGTGGGACTGTTGGAGTGGGAGTGGGGAATTATAGGGTTTTGCAATTTGTTGGGCTTACTGGGCCTCCTAGGCTTACTGGGCCTC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.30% 32.10% 0.23% 13.37% NA
All Indica  2759 88.60% 4.90% 0.25% 6.27% NA
All Japonica  1512 1.40% 82.10% 0.20% 16.34% NA
Aus  269 20.10% 34.20% 0.00% 45.72% NA
Indica I  595 92.40% 4.40% 0.50% 2.69% NA
Indica II  465 85.40% 9.70% 0.00% 4.95% NA
Indica III  913 92.10% 2.50% 0.22% 5.15% NA
Indica Intermediate  786 83.60% 5.10% 0.25% 11.07% NA
Temperate Japonica  767 1.20% 91.70% 0.00% 7.17% NA
Tropical Japonica  504 1.20% 82.30% 0.00% 16.47% NA
Japonica Intermediate  241 2.50% 51.00% 1.24% 45.23% NA
VI/Aromatic  96 8.30% 9.40% 1.04% 81.25% NA
Intermediate  90 43.30% 44.40% 0.00% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0905539417 A -> DEL N N silent_mutation Average:84.665; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0905539417 A -> C LOC_Os09g10190.1 upstream_gene_variant ; 3634.0bp to feature; MODIFIER silent_mutation Average:84.665; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0905539417 A -> C LOC_Os09g10180.1 downstream_gene_variant ; 2.0bp to feature; MODIFIER silent_mutation Average:84.665; most accessible tissue: Minghui63 young leaf, score: 92.775 N N N N
vg0905539417 A -> C LOC_Os09g10170-LOC_Os09g10180 intergenic_region ; MODIFIER silent_mutation Average:84.665; most accessible tissue: Minghui63 young leaf, score: 92.775 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)
vg0905539417 A C 0.01 0.01 0.0 0.01 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0905539417 NA 3.15E-07 mr1446_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
vg0905539417 NA 8.55E-06 mr1648_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
vg0905539417 3.80E-06 NA mr1691_2 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
vg0905539417 NA 2.50E-06 mr1691_2 Jap_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
vg0905539417 NA 4.17E-06 mr1720_2 Jap_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