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Detailed information for vg0225378161:

Variant ID: vg0225378161 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 25378161
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.92, T: 0.08, others allele: 0.00, population size: 250. )

Flanking Sequence (100 bp) in Reference Genome:


GGCAGCAAACAATTTTCTTGCAATTTACCAAGTCTGTGTATTTGTTGACGCTGTATCGACGAAGTCCAGGGGCACTACTCCCATCAGATATCACGTCGTT[G/T]
CTGGGGCCAACGACTCACCCAACTGTCGGTCTCTGCTCGACTCACCCAACGACTCACCCTATTCATCCGATTTTTTCCACGCGTTCAGTAGCTATCTACC

Reverse complement sequence

GGTAGATAGCTACTGAACGCGTGGAAAAAATCGGATGAATAGGGTGAGTCGTTGGGTGAGTCGAGCAGAGACCGACAGTTGGGTGAGTCGTTGGCCCCAG[C/A]
AACGACGTGATATCTGATGGGAGTAGTGCCCCTGGACTTCGTCGATACAGCGTCAACAAATACACAGACTTGGTAAATTGCAAGAAAATTGTTTGCTGCC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 53.40% 45.90% 0.25% 0.44% NA
All Indica  2759 41.40% 57.70% 0.33% 0.58% NA
All Japonica  1512 84.40% 15.30% 0.13% 0.13% NA
Aus  269 9.30% 90.70% 0.00% 0.00% NA
Indica I  595 63.20% 35.60% 0.34% 0.84% NA
Indica II  465 29.00% 70.10% 0.65% 0.22% NA
Indica III  913 38.60% 60.80% 0.22% 0.44% NA
Indica Intermediate  786 35.40% 63.60% 0.25% 0.76% NA
Temperate Japonica  767 99.00% 1.00% 0.00% 0.00% NA
Tropical Japonica  504 59.50% 39.90% 0.20% 0.40% NA
Japonica Intermediate  241 90.00% 9.50% 0.41% 0.00% NA
VI/Aromatic  96 33.30% 66.70% 0.00% 0.00% NA
Intermediate  90 53.30% 42.20% 1.11% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0225378161 G -> T LOC_Os02g42190.1 upstream_gene_variant ; 268.0bp to feature; MODIFIER silent_mutation Average:93.841; most accessible tissue: Minghui63 young leaf, score: 97.49 N N N N
vg0225378161 G -> T LOC_Os02g42200.1 downstream_gene_variant ; 1618.0bp to feature; MODIFIER silent_mutation Average:93.841; most accessible tissue: Minghui63 young leaf, score: 97.49 N N N N
vg0225378161 G -> T LOC_Os02g42190-LOC_Os02g42200 intergenic_region ; MODIFIER silent_mutation Average:93.841; most accessible tissue: Minghui63 young leaf, score: 97.49 N N N N
vg0225378161 G -> DEL N N silent_mutation Average:93.841; most accessible tissue: Minghui63 young leaf, score: 97.49 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)
vg0225378161 G T -0.33 -0.3 -0.24 -0.18 -0.26 -0.2

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0225378161 NA 2.72E-06 mr1069 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
vg0225378161 NA 2.79E-06 mr1077 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
vg0225378161 NA 1.99E-07 mr1156 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
vg0225378161 NA 1.54E-08 mr1179 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
vg0225378161 NA 1.51E-06 mr1709 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
vg0225378161 NA 3.04E-07 mr1558_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