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Detailed information for vg0522802477:

Variant ID: vg0522802477 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 22802477
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.94, C: 0.06, others allele: 0.00, population size: 100. )

Flanking Sequence (100 bp) in Reference Genome:


GAATTCTTGAGATCCCTTAACCACATAACCAGAAATGTGTACCCCTAAACTCACACAAACCGTTCAAAGGAGGTCCCATGACAGTATATGTGGGTGGTTT[T/C]
GCTGACGTGGCATCCTAGTCAGCATTTTTTTTAAAAAAGTATGTGGGCCCACATGTCAGTTACACATATTTTCTTTTCTTTTCTTTTCTTCTCCTCCTCT

Reverse complement sequence

AGAGGAGGAGAAGAAAAGAAAAGAAAAGAAAATATGTGTAACTGACATGTGGGCCCACATACTTTTTTAAAAAAAATGCTGACTAGGATGCCACGTCAGC[A/G]
AAACCACCCACATATACTGTCATGGGACCTCCTTTGAACGGTTTGTGTGAGTTTAGGGGTACACATTTCTGGTTATGTGGTTAAGGGATCTCAAGAATTC

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 40.50% 9.30% 9.48% 40.71% NA
All Indica  2759 6.90% 14.60% 15.15% 63.36% NA
All Japonica  1512 98.70% 0.30% 0.33% 0.60% NA
Aus  269 36.40% 7.40% 6.32% 49.81% NA
Indica I  595 0.80% 16.60% 14.79% 67.73% NA
Indica II  465 8.20% 21.10% 18.06% 52.69% NA
Indica III  913 12.00% 10.10% 13.69% 64.18% NA
Indica Intermediate  786 4.70% 14.50% 15.39% 65.39% NA
Temperate Japonica  767 99.50% 0.00% 0.13% 0.39% NA
Tropical Japonica  504 97.80% 1.00% 0.40% 0.79% NA
Japonica Intermediate  241 98.30% 0.00% 0.83% 0.83% NA
VI/Aromatic  96 96.90% 2.10% 0.00% 1.04% NA
Intermediate  90 46.70% 8.90% 8.89% 35.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0522802477 T -> DEL N N silent_mutation Average:86.283; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0522802477 T -> C LOC_Os05g38860.1 upstream_gene_variant ; 1501.0bp to feature; MODIFIER silent_mutation Average:86.283; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0522802477 T -> C LOC_Os05g38850.1 downstream_gene_variant ; 4923.0bp to feature; MODIFIER silent_mutation Average:86.283; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0522802477 T -> C LOC_Os05g38870.1 downstream_gene_variant ; 31.0bp to feature; MODIFIER silent_mutation Average:86.283; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0522802477 T -> C LOC_Os05g38880.1 downstream_gene_variant ; 4886.0bp to feature; MODIFIER silent_mutation Average:86.283; most accessible tissue: Minghui63 root, score: 92.879 N N N N
vg0522802477 T -> C LOC_Os05g38860-LOC_Os05g38870 intergenic_region ; MODIFIER silent_mutation Average:86.283; most accessible tissue: Minghui63 root, score: 92.879 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)
vg0522802477 T C -0.03 -0.02 -0.02 -0.02 -0.03 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0522802477 NA 1.44E-10 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
vg0522802477 NA 2.50E-06 mr1629 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
vg0522802477 NA 1.34E-11 mr1889 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
vg0522802477 NA 3.01E-09 mr1896 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
vg0522802477 NA 4.09E-10 mr1903 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
vg0522802477 NA 1.45E-13 mr1907 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
vg0522802477 NA 1.57E-08 mr1934 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
vg0522802477 NA 1.18E-07 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
vg0522802477 NA 1.24E-08 mr1986 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
vg0522802477 NA 2.13E-07 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
vg0522802477 NA 7.56E-22 mr1609_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
vg0522802477 6.25E-07 NA mr1750_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
vg0522802477 NA 2.44E-09 mr1889_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
vg0522802477 NA 2.97E-07 mr1896_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
vg0522802477 NA 1.85E-08 mr1907_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
vg0522802477 NA 2.47E-08 mr1934_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
vg0522802477 NA 1.31E-06 mr1951_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