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Detailed information for vg0205500892:

Variant ID: vg0205500892 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5500892
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAAAAAATTGTGGACTTACACAAATTCTTGTGTTTATAGATAATTATTACTTTCTCCGTCAAAAAAAACCATCCTAAGTTTGAGTGTTCAGATTCAAATT[C/T]
AGGATTGTTTTTTTTTTACGAACGAAGACGTCAATCATAAAAAAAAATAAAAGTGATAAAGCTATATTTAGATTTTTCGTCTAGTAGAAGAAAAATGAGA

Reverse complement sequence

TCTCATTTTTCTTCTACTAGACGAAAAATCTAAATATAGCTTTATCACTTTTATTTTTTTTTATGATTGACGTCTTCGTTCGTAAAAAAAAAACAATCCT[G/A]
AATTTGAATCTGAACACTCAAACTTAGGATGGTTTTTTTTGACGGAGAAAGTAATAATTATCTATAAACACAAGAATTTGTGTAAGTCCACAATTTTTTT

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 91.70% 5.80% 1.54% 0.89% NA
All Indica  2759 98.10% 0.30% 0.62% 0.98% NA
All Japonica  1512 80.00% 17.10% 2.84% 0.13% NA
Aus  269 94.40% 0.00% 2.23% 3.35% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 95.10% 0.20% 2.37% 2.37% NA
Indica III  913 98.60% 0.30% 0.33% 0.77% NA
Indica Intermediate  786 98.10% 0.50% 0.25% 1.15% NA
Temperate Japonica  767 97.40% 0.90% 1.56% 0.13% NA
Tropical Japonica  504 46.80% 47.80% 5.16% 0.20% NA
Japonica Intermediate  241 93.80% 4.10% 2.07% 0.00% NA
VI/Aromatic  96 91.70% 0.00% 4.17% 4.17% NA
Intermediate  90 85.60% 11.10% 3.33% 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
vg0205500892 C -> T LOC_Os02g10470.1 upstream_gene_variant ; 273.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10480.1 upstream_gene_variant ; 4211.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10480.5 upstream_gene_variant ; 4124.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10480.6 upstream_gene_variant ; 4124.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10480.2 upstream_gene_variant ; 4175.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10480.3 upstream_gene_variant ; 4209.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10480.4 upstream_gene_variant ; 4231.0bp to feature; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> T LOC_Os02g10460-LOC_Os02g10470 intergenic_region ; MODIFIER silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0205500892 C -> DEL N N silent_mutation Average:95.823; most accessible tissue: Minghui63 young leaf, score: 98.029 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)
vg0205500892 C T -0.02 -0.03 -0.04 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0205500892 NA 8.98E-06 mr1125 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
vg0205500892 NA 2.29E-07 mr1543 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
vg0205500892 NA 1.64E-06 mr1642 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
vg0205500892 NA 2.22E-06 mr1742 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
vg0205500892 NA 4.53E-06 mr1217_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
vg0205500892 NA 9.51E-07 mr1218_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
vg0205500892 NA 1.70E-10 mr1422_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
vg0205500892 NA 1.84E-07 mr1583_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
vg0205500892 NA 1.32E-06 mr1633_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
vg0205500892 NA 1.86E-08 mr1653_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
vg0205500892 NA 5.62E-08 mr1696_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
vg0205500892 NA 3.99E-07 mr1830_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
vg0205500892 NA 2.79E-08 mr1850_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
vg0205500892 NA 1.70E-06 mr1905_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
vg0205500892 NA 3.45E-10 mr1942_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