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Detailed information for vg0223067145:

Variant ID: vg0223067145 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 23067145
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, C: 0.00, others allele: 0.00, population size: 222. )

Flanking Sequence (100 bp) in Reference Genome:


GTATAGGATTAACTCATGAATTAACGACAGGACAGTTAACTTGCACACAATTGTATCGAAACAATCACGGTAGACGCGGCCGCGCACTTAGCGTGTGGTG[C/T]
GGTTGCACGAAACGGACTGTAAATGACGAGCCATCTCAGTTAAGTGATCAGCCCATTAATCTCCCTTTTTTTACAGCTGACGCAAAAAAGGTTAACCATC

Reverse complement sequence

GATGGTTAACCTTTTTTGCGTCAGCTGTAAAAAAAGGGAGATTAATGGGCTGATCACTTAACTGAGATGGCTCGTCATTTACAGTCCGTTTCGTGCAACC[G/A]
CACCACACGCTAAGTGCGCGGCCGCGTCTACCGTGATTGTTTCGATACAATTGTGTGCAAGTTAACTGTCCTGTCGTTAATTCATGAGTTAATCCTATAC

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 62.90% 36.80% 0.30% 0.00% NA
All Indica  2759 93.50% 6.10% 0.40% 0.00% NA
All Japonica  1512 2.60% 97.20% 0.13% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 85.90% 12.90% 1.18% 0.00% NA
Indica II  465 99.10% 0.90% 0.00% 0.00% NA
Indica III  913 94.90% 5.10% 0.00% 0.00% NA
Indica Intermediate  786 94.50% 5.00% 0.51% 0.00% NA
Temperate Japonica  767 1.00% 98.80% 0.13% 0.00% NA
Tropical Japonica  504 4.80% 95.20% 0.00% 0.00% NA
Japonica Intermediate  241 3.30% 96.30% 0.41% 0.00% NA
VI/Aromatic  96 47.90% 52.10% 0.00% 0.00% NA
Intermediate  90 41.10% 57.80% 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
vg0223067145 C -> T LOC_Os02g38130.1 upstream_gene_variant ; 596.0bp to feature; MODIFIER silent_mutation Average:93.021; most accessible tissue: Minghui63 flower, score: 98.542 N N N N
vg0223067145 C -> T LOC_Os02g38140.1 downstream_gene_variant ; 2478.0bp to feature; MODIFIER silent_mutation Average:93.021; most accessible tissue: Minghui63 flower, score: 98.542 N N N N
vg0223067145 C -> T LOC_Os02g38140.2 downstream_gene_variant ; 2478.0bp to feature; MODIFIER silent_mutation Average:93.021; most accessible tissue: Minghui63 flower, score: 98.542 N N N N
vg0223067145 C -> T LOC_Os02g38130-LOC_Os02g38140 intergenic_region ; MODIFIER silent_mutation Average:93.021; most accessible tissue: Minghui63 flower, score: 98.542 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)
vg0223067145 C T 0.0 0.0 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0223067145 NA 8.89E-26 mr1024 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
vg0223067145 NA 6.74E-17 mr1116 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
vg0223067145 NA 6.45E-06 mr1177 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
vg0223067145 NA 6.20E-19 mr1529 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
vg0223067145 NA 1.01E-17 mr1557 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
vg0223067145 NA 1.34E-21 mr1627 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
vg0223067145 NA 3.12E-17 mr1653 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
vg0223067145 NA 2.32E-24 mr1715 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
vg0223067145 NA 9.31E-07 mr1715 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
vg0223067145 NA 6.15E-25 mr1917 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
vg0223067145 NA 2.24E-19 mr1383_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
vg0223067145 NA 6.32E-16 mr1557_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
vg0223067145 NA 1.25E-29 mr1631_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
vg0223067145 NA 4.29E-25 mr1653_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
vg0223067145 NA 3.20E-19 mr1715_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
vg0223067145 NA 3.89E-11 mr1986_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