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Detailed information for vg0205477465:

Variant ID: vg0205477465 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5477465
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CACCACCTTCTCCCGCGCCGCGTACCCGTGCGCCTCCTGGAACTCTACCGGCACGTTCTTTGAGATTGATCGAGAGGTTTAGCAACAACAATAAGACAGT[G/A]
GAAGGCAACTCGATCAAAATGGTGGCATAGGGTGGGTGTGCTGAACAAAGCGCCTGATCATCTCATGCCTCCTACGAAGTTCACTTCGTGAAATGAAGTG

Reverse complement sequence

CACTTCATTTCACGAAGTGAACTTCGTAGGAGGCATGAGATGATCAGGCGCTTTGTTCAGCACACCCACCCTATGCCACCATTTTGATCGAGTTGCCTTC[C/T]
ACTGTCTTATTGTTGTTGCTAAACCTCTCGATCAATCTCAAAGAACGTGCCGGTAGAGTTCCAGGAGGCGCACGGGTACGCGGCGCGGGAGAAGGTGGTG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.00% 21.00% 1.02% 0.02% NA
All Indica  2759 88.80% 10.90% 0.33% 0.04% NA
All Japonica  1512 73.70% 23.90% 2.38% 0.00% NA
Aus  269 15.20% 84.40% 0.37% 0.00% NA
Indica I  595 99.70% 0.20% 0.17% 0.00% NA
Indica II  465 71.60% 28.20% 0.22% 0.00% NA
Indica III  913 92.20% 7.70% 0.00% 0.11% NA
Indica Intermediate  786 86.60% 12.50% 0.89% 0.00% NA
Temperate Japonica  767 96.30% 2.20% 1.43% 0.00% NA
Tropical Japonica  504 31.90% 63.90% 4.17% 0.00% NA
Japonica Intermediate  241 88.80% 9.50% 1.66% 0.00% NA
VI/Aromatic  96 26.00% 74.00% 0.00% 0.00% NA
Intermediate  90 61.10% 36.70% 2.22% 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
vg0205477465 G -> A LOC_Os02g10400.1 upstream_gene_variant ; 2331.0bp to feature; MODIFIER silent_mutation Average:87.637; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0205477465 G -> A LOC_Os02g10410.1 upstream_gene_variant ; 1507.0bp to feature; MODIFIER silent_mutation Average:87.637; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0205477465 G -> A LOC_Os02g10430.1 downstream_gene_variant ; 1233.0bp to feature; MODIFIER silent_mutation Average:87.637; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0205477465 G -> A LOC_Os02g10430.2 downstream_gene_variant ; 1233.0bp to feature; MODIFIER silent_mutation Average:87.637; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0205477465 G -> A LOC_Os02g10420.1 intron_variant ; MODIFIER silent_mutation Average:87.637; most accessible tissue: Minghui63 flower, score: 92.871 N N N N
vg0205477465 G -> DEL N N silent_mutation Average:87.637; most accessible tissue: Minghui63 flower, score: 92.871 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)
vg0205477465 G A -0.01 -0.01 0.01 0.0 0.0 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0205477465 NA 2.07E-06 mr1032 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
vg0205477465 NA 4.97E-08 mr1170 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
vg0205477465 NA 7.24E-06 mr1478 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
vg0205477465 NA 2.59E-08 mr1593 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
vg0205477465 NA 7.32E-12 mr1696 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
vg0205477465 NA 3.17E-07 mr1696 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
vg0205477465 NA 4.34E-06 mr1158_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
vg0205477465 NA 3.91E-06 mr1170_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
vg0205477465 NA 6.46E-12 mr1593_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
vg0205477465 NA 1.11E-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