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Detailed information for vg0234219499:

Variant ID: vg0234219499 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 34219499
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, T: 0.01, others allele: 0.00, population size: 245. )

Flanking Sequence (100 bp) in Reference Genome:


GCCATAAATGATTTGGAGTTAGTAGTTGGCTATACTATTAAACTTGCTCTAACTGAAGAGAGAGATTGAAGTGGGCGACTATTTAAGTGCCCGGCGATAG[C/T]
ACGCGTTGCACGATAAAAAAATACATTTTGTGGGCCCCACAACCACCCTCATCGGATCTCATGTCTCATACTTGTGTTCCCACCTATGTTCTGCTTTTCG

Reverse complement sequence

CGAAAAGCAGAACATAGGTGGGAACACAAGTATGAGACATGAGATCCGATGAGGGTGGTTGTGGGGCCCACAAAATGTATTTTTTTATCGTGCAACGCGT[G/A]
CTATCGCCGGGCACTTAAATAGTCGCCCACTTCAATCTCTCTCTTCAGTTAGAGCAAGTTTAATAGTATAGCCAACTACTAACTCCAAATCATTTATGGC

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 57.60% 42.30% 0.19% 0.00% NA
All Indica  2759 29.10% 70.60% 0.29% 0.00% NA
All Japonica  1512 98.50% 1.50% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 28.40% 71.40% 0.17% 0.00% NA
Indica II  465 10.80% 89.20% 0.00% 0.00% NA
Indica III  913 37.20% 62.20% 0.55% 0.00% NA
Indica Intermediate  786 31.20% 68.60% 0.25% 0.00% NA
Temperate Japonica  767 97.70% 2.30% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 98.30% 1.70% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 68.90% 30.00% 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
vg0234219499 C -> T LOC_Os02g55890.1 upstream_gene_variant ; 4491.0bp to feature; MODIFIER silent_mutation Average:98.58; most accessible tissue: Minghui63 flower, score: 99.763 N N N N
vg0234219499 C -> T LOC_Os02g55910.1 upstream_gene_variant ; 3618.0bp to feature; MODIFIER silent_mutation Average:98.58; most accessible tissue: Minghui63 flower, score: 99.763 N N N N
vg0234219499 C -> T LOC_Os02g55910.2 upstream_gene_variant ; 4239.0bp to feature; MODIFIER silent_mutation Average:98.58; most accessible tissue: Minghui63 flower, score: 99.763 N N N N
vg0234219499 C -> T LOC_Os02g55900.1 intron_variant ; MODIFIER silent_mutation Average:98.58; most accessible tissue: Minghui63 flower, score: 99.763 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)
vg0234219499 C T -0.04 -0.03 -0.01 0.01 -0.03 -0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0234219499 2.01E-06 NA mr1011 Ind_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
vg0234219499 NA 3.18E-32 mr1026 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
vg0234219499 NA 3.07E-48 mr1063 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
vg0234219499 NA 2.27E-09 mr1151 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
vg0234219499 NA 4.83E-33 mr1161 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
vg0234219499 NA 3.98E-28 mr1221 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
vg0234219499 NA 4.02E-10 mr1714 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
vg0234219499 NA 1.47E-12 mr1189_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
vg0234219499 NA 4.86E-17 mr1260_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
vg0234219499 NA 1.19E-14 mr1514_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
vg0234219499 NA 6.67E-07 mr1834_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