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Detailed information for vg0301847279:

Variant ID: vg0301847279 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 1847279
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCTATATAAAAGGTACTTAAAAATTAAATAATATATTTGTCAAAATTTTAATAATTAATAGTCATTTAATTATATACTAACCACTTTTTTCGTTTGTGA[G/A]
CCGCTAATCAGCCCAAATTCATGTACCACAAAGAACACATTATAATTATTTTTTTCATTGGTAGGCAAGGTATCAATCAAGAGTAAATCAATTGTGGTGG

Reverse complement sequence

CCACCACAATTGATTTACTCTTGATTGATACCTTGCCTACCAATGAAAAAAATAATTATAATGTGTTCTTTGTGGTACATGAATTTGGGCTGATTAGCGG[C/T]
TCACAAACGAAAAAAGTGGTTAGTATATAATTAAATGACTATTAATTATTAAAATTTTGACAAATATATTATTTAATTTTTAAGTACCTTTTATATAGAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.20% 0.50% 2.22% 3.07% NA
All Indica  2759 98.70% 0.10% 0.54% 0.58% NA
All Japonica  1512 99.50% 0.20% 0.20% 0.13% NA
Aus  269 27.90% 5.90% 28.62% 37.55% NA
Indica I  595 99.80% 0.00% 0.00% 0.17% NA
Indica II  465 99.10% 0.20% 0.43% 0.22% NA
Indica III  913 98.90% 0.10% 0.44% 0.55% NA
Indica Intermediate  786 97.50% 0.30% 1.15% 1.15% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.40% 0.20% 0.00% NA
Japonica Intermediate  241 97.90% 0.40% 0.83% 0.83% NA
VI/Aromatic  96 64.60% 2.10% 8.33% 25.00% NA
Intermediate  90 95.60% 0.00% 2.22% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0301847279 G -> A LOC_Os03g04040.1 downstream_gene_variant ; 1987.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301847279 G -> A LOC_Os03g04040-LOC_Os03g04050 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301847279 G -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0301847279 G A 0.0 0.0 0.0 0.0 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0301847279 NA 1.31E-06 mr1126 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
vg0301847279 NA 3.18E-14 mr1231 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
vg0301847279 NA 7.31E-13 mr1409 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
vg0301847279 NA 4.20E-06 mr1523 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
vg0301847279 NA 2.36E-06 mr1652 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
vg0301847279 NA 4.57E-06 mr1528_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
vg0301847279 2.55E-06 NA mr1889_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
vg0301847279 2.51E-06 NA mr1896_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
vg0301847279 5.65E-06 NA mr1907_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