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Detailed information for vg0225142897:

Variant ID: vg0225142897 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 25142897
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTAGAGCATCCGCAATGATAAATTAATGTGCTCTCTATAAAACATATATATCTCAGCAATAGATTAGATTAATAGTAAACCACCTCAATAGTATGTCTA[C/T]
ATAGGTATCTATAGCTCTCTAATGCACTGCCTCGTTTTTCTCTATAGACTATCTCTATATTAGTAGATAGCTTTGCTCTCTCTCTTTATTTAATCTCTTC

Reverse complement sequence

GAAGAGATTAAATAAAGAGAGAGAGCAAAGCTATCTACTAATATAGAGATAGTCTATAGAGAAAAACGAGGCAGTGCATTAGAGAGCTATAGATACCTAT[G/A]
TAGACATACTATTGAGGTGGTTTACTATTAATCTAATCTATTGCTGAGATATATATGTTTTATAGAGAGCACATTAATTTATCATTGCGGATGCTCTAAT

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 87.30% 11.20% 1.50% 0.00% NA
All Indica  2759 96.60% 3.10% 0.33% 0.00% NA
All Japonica  1512 69.40% 26.50% 4.03% 0.00% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 94.60% 4.50% 0.84% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 95.80% 4.10% 0.11% 0.00% NA
Indica Intermediate  786 96.90% 2.70% 0.38% 0.00% NA
Temperate Japonica  767 71.40% 21.90% 6.65% 0.00% NA
Tropical Japonica  504 70.20% 29.40% 0.40% 0.00% NA
Japonica Intermediate  241 61.40% 35.30% 3.32% 0.00% NA
VI/Aromatic  96 65.60% 34.40% 0.00% 0.00% NA
Intermediate  90 88.90% 11.10% 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
vg0225142897 C -> T LOC_Os02g41810.1 upstream_gene_variant ; 2565.0bp to feature; MODIFIER silent_mutation Average:94.889; most accessible tissue: Minghui63 root, score: 99.08 N N N N
vg0225142897 C -> T LOC_Os02g41820.1 downstream_gene_variant ; 4048.0bp to feature; MODIFIER silent_mutation Average:94.889; most accessible tissue: Minghui63 root, score: 99.08 N N N N
vg0225142897 C -> T LOC_Os02g41800-LOC_Os02g41810 intergenic_region ; MODIFIER silent_mutation Average:94.889; most accessible tissue: Minghui63 root, score: 99.08 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)
vg0225142897 C T -0.02 -0.02 -0.03 -0.01 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0225142897 NA 1.01E-07 mr1084_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
vg0225142897 NA 1.36E-07 mr1205_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
vg0225142897 1.32E-06 NA mr1252_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
vg0225142897 NA 3.85E-06 mr1252_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
vg0225142897 6.41E-06 NA mr1596_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
vg0225142897 NA 6.86E-06 mr1728_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
vg0225142897 4.37E-06 NA mr1748_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
vg0225142897 NA 2.21E-06 mr1748_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