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Detailed information for vg0404517226:

Variant ID: vg0404517226 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 4517226
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.53, C: 0.47, others allele: 0.00, population size: 89. )

Flanking Sequence (100 bp) in Reference Genome:


TGCTCCACCTCCTGCATAGTCGCTGCTACCCTGCCGGGTTAATGGCCCTGGCGAGGCCTCCCCCAAGGTTGTGGTGCTGAGTGCCCCTGCCCCACCATCT[T/C]
CCTCGTCTCCAGCGGCTCCCCACCGTCGGATATCACTGGCCGCCGCCTCCTAACCAGTCTCGTTGTTTTCTCCCGCCGCCAAAGCCGGCCCTCCACCTGC

Reverse complement sequence

GCAGGTGGAGGGCCGGCTTTGGCGGCGGGAGAAAACAACGAGACTGGTTAGGAGGCGGCGGCCAGTGATATCCGACGGTGGGGAGCCGCTGGAGACGAGG[A/G]
AGATGGTGGGGCAGGGGCACTCAGCACCACAACCTTGGGGGAGGCCTCGCCAGGGCCATTAACCCGGCAGGGTAGCAGCGACTATGCAGGAGGTGGAGCA

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 56.40% 43.50% 0.08% 0.00% NA
All Indica  2759 37.00% 62.80% 0.11% 0.00% NA
All Japonica  1512 89.30% 10.60% 0.07% 0.00% NA
Aus  269 53.90% 46.10% 0.00% 0.00% NA
Indica I  595 5.40% 94.60% 0.00% 0.00% NA
Indica II  465 72.90% 27.10% 0.00% 0.00% NA
Indica III  913 34.60% 65.30% 0.11% 0.00% NA
Indica Intermediate  786 42.60% 57.10% 0.25% 0.00% NA
Temperate Japonica  767 98.40% 1.40% 0.13% 0.00% NA
Tropical Japonica  504 82.50% 17.50% 0.00% 0.00% NA
Japonica Intermediate  241 74.30% 25.70% 0.00% 0.00% NA
VI/Aromatic  96 87.50% 12.50% 0.00% 0.00% NA
Intermediate  90 73.30% 26.70% 0.00% 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
vg0404517226 T -> C LOC_Os04g08410.1 upstream_gene_variant ; 3343.0bp to feature; MODIFIER silent_mutation Average:76.512; most accessible tissue: Zhenshan97 young leaf, score: 88.127 N N N N
vg0404517226 T -> C LOC_Os04g08415.1 downstream_gene_variant ; 3533.0bp to feature; MODIFIER silent_mutation Average:76.512; most accessible tissue: Zhenshan97 young leaf, score: 88.127 N N N N
vg0404517226 T -> C LOC_Os04g08410-LOC_Os04g08415 intergenic_region ; MODIFIER silent_mutation Average:76.512; most accessible tissue: Zhenshan97 young leaf, score: 88.127 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)
vg0404517226 T C 0.01 0.0 0.0 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0404517226 NA 5.43E-15 mr1535 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
vg0404517226 NA 3.22E-06 mr1608 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
vg0404517226 NA 5.21E-07 mr1835 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
vg0404517226 NA 7.49E-06 mr1835 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
vg0404517226 NA 2.89E-10 mr1904 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
vg0404517226 NA 3.84E-06 mr1072_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
vg0404517226 NA 4.15E-06 mr1075_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
vg0404517226 NA 2.33E-06 mr1149_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
vg0404517226 NA 3.64E-06 mr1441_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
vg0404517226 2.58E-06 4.32E-08 mr1595_2 Jap_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
vg0404517226 NA 5.74E-10 mr1835_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
vg0404517226 NA 2.36E-06 mr1835_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
vg0404517226 NA 5.64E-13 mr1904_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