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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0500972422:

Variant ID: vg0500972422 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 972422
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.94, T: 0.06, others allele: 0.00, population size: 250. )

Flanking Sequence (100 bp) in Reference Genome:


AGAGAGAGATGATATCATTGTTTTGAGAAGTGTATCTTTATTCGGCCTCTACATCTAACTGGACAATATATGCAACCTTTTTTTTAATTAGGAACTTAGC[C/T]
TATCAAATAGAGAACTTAGCCCTTAAATAACCCAATCTGAAATTCGCTGCTATGAAGGGCTTGTTTGGTACAGCTCCAACTCTTAAATATAACTCCAGGA

Reverse complement sequence

TCCTGGAGTTATATTTAAGAGTTGGAGCTGTACCAAACAAGCCCTTCATAGCAGCGAATTTCAGATTGGGTTATTTAAGGGCTAAGTTCTCTATTTGATA[G/A]
GCTAAGTTCCTAATTAAAAAAAAGGTTGCATATATTGTCCAGTTAGATGTAGAGGCCGAATAAAGATACACTTCTCAAAACAATGATATCATCTCTCTCT

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 60.30% 36.20% 0.38% 3.03% NA
All Indica  2759 48.60% 51.00% 0.14% 0.22% NA
All Japonica  1512 87.80% 2.60% 0.86% 8.73% NA
Aus  269 11.90% 88.10% 0.00% 0.00% NA
Indica I  595 24.90% 75.10% 0.00% 0.00% NA
Indica II  465 46.70% 52.70% 0.00% 0.65% NA
Indica III  913 69.20% 30.60% 0.22% 0.00% NA
Indica Intermediate  786 43.80% 55.60% 0.25% 0.38% NA
Temperate Japonica  767 94.90% 3.10% 0.52% 1.43% NA
Tropical Japonica  504 75.60% 1.40% 1.59% 21.43% NA
Japonica Intermediate  241 90.50% 3.70% 0.41% 5.39% NA
VI/Aromatic  96 89.60% 10.40% 0.00% 0.00% NA
Intermediate  90 73.30% 20.00% 1.11% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0500972422 C -> T LOC_Os05g02710.1 upstream_gene_variant ; 1602.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500972422 C -> T LOC_Os05g02720.1 upstream_gene_variant ; 3117.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500972422 C -> T LOC_Os05g02700-LOC_Os05g02710 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500972422 C -> 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)
vg0500972422 C T 0.03 -0.02 -0.01 0.01 -0.01 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0500972422 NA 2.20E-06 mr1209 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
vg0500972422 NA 5.33E-09 mr1302 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
vg0500972422 NA 9.40E-07 mr1418 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
vg0500972422 NA 3.40E-09 mr1420 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
vg0500972422 NA 4.82E-07 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
vg0500972422 NA 7.09E-08 mr1506 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
vg0500972422 NA 7.93E-06 mr1545 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
vg0500972422 NA 2.51E-10 mr1683 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
vg0500972422 NA 4.01E-06 mr1741 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
vg0500972422 NA 8.86E-09 mr1776 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
vg0500972422 NA 8.66E-09 mr1779 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
vg0500972422 NA 7.66E-08 mr1802 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
vg0500972422 NA 1.95E-07 mr1810 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
vg0500972422 NA 1.31E-06 mr1886 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
vg0500972422 NA 2.96E-08 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