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Detailed information for vg0235290910:

Variant ID: vg0235290910 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 35290910
Reference Allele: GAlternative Allele: T,GTTTGGGATGGAA
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 286. )

Flanking Sequence (100 bp) in Reference Genome:


TGATACGTTCCTCTCCTCTGCGATCCGACCCGGACCGTTGGACCGTTAGTGTTCCATCGAACAGCCAGTAAAGCCAAAAATGCTTATAGTTTGGGATGGA[G/T,GTTTGGGATGGAA]
GGAGTATTTTCTATCAATCGCAGCGGTCTAATTTCCTATTGGGGTAAACAATAATATGGAACAAATGCAAATATTAGAGAAAAACCTAATACTCCCAACG

Reverse complement sequence

CGTTGGGAGTATTAGGTTTTTCTCTAATATTTGCATTTGTTCCATATTATTGTTTACCCCAATAGGAAATTAGACCGCTGCGATTGATAGAAAATACTCC[C/A,TTCCATCCCAAAC]
TCCATCCCAAACTATAAGCATTTTTGGCTTTACTGGCTGTTCGATGGAACACTAACGGTCCAACGGTCCGGGTCGGATCGCAGAGGAGAGGAACGTATCA

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 94.10% 5.60% 0.19% 0.00% GTTTGGGATGGAA: 0.04%
All Indica  2759 99.80% 0.10% 0.00% 0.00% GTTTGGGATGGAA: 0.07%
All Japonica  1512 82.40% 17.10% 0.53% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 99.70% 0.10% 0.00% 0.00% GTTTGGGATGGAA: 0.22%
Indica Intermediate  786 99.90% 0.10% 0.00% 0.00% NA
Temperate Japonica  767 96.30% 3.50% 0.13% 0.00% NA
Tropical Japonica  504 59.10% 39.90% 0.99% 0.00% NA
Japonica Intermediate  241 86.70% 12.40% 0.83% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 5.60% 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
vg0235290910 G -> T LOC_Os02g57630.1 upstream_gene_variant ; 2502.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> T LOC_Os02g57630.3 upstream_gene_variant ; 2501.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> T LOC_Os02g57630.2 upstream_gene_variant ; 2501.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> T LOC_Os02g57630.4 upstream_gene_variant ; 2657.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> T LOC_Os02g57620.1 downstream_gene_variant ; 194.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> T LOC_Os02g57620-LOC_Os02g57630 intergenic_region ; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> GTTTGGGATGGAA LOC_Os02g57630.1 upstream_gene_variant ; 2501.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> GTTTGGGATGGAA LOC_Os02g57630.3 upstream_gene_variant ; 2500.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> GTTTGGGATGGAA LOC_Os02g57630.2 upstream_gene_variant ; 2500.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> GTTTGGGATGGAA LOC_Os02g57630.4 upstream_gene_variant ; 2656.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> GTTTGGGATGGAA LOC_Os02g57620.1 downstream_gene_variant ; 195.0bp to feature; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 N N N N
vg0235290910 G -> GTTTGGGATGGAA LOC_Os02g57620-LOC_Os02g57630 intergenic_region ; MODIFIER silent_mutation Average:61.618; most accessible tissue: Zhenshan97 flag leaf, score: 76.061 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)
vg0235290910 G GTTTG* 0.22 0.11 0.2 0.06 0.22 0.19
vg0235290910 G T -0.01 0.0 0.0 0.0 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0235290910 6.70E-06 NA mr1125 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
vg0235290910 NA 5.02E-06 mr1518 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
vg0235290910 NA 2.31E-06 mr1676 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
vg0235290910 NA 7.68E-06 mr1194_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
vg0235290910 NA 2.42E-06 mr1206_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
vg0235290910 NA 7.76E-06 mr1236_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
vg0235290910 NA 5.32E-06 mr1236_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
vg0235290910 NA 8.80E-08 mr1248_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
vg0235290910 NA 1.07E-06 mr1418_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
vg0235290910 NA 7.86E-06 mr1419_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
vg0235290910 NA 1.67E-06 mr1420_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
vg0235290910 NA 3.30E-06 mr1425_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
vg0235290910 NA 5.12E-06 mr1425_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
vg0235290910 NA 4.59E-07 mr1488_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
vg0235290910 NA 5.03E-08 mr1668_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
vg0235290910 NA 4.80E-14 mr1769_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
vg0235290910 NA 1.02E-15 mr1769_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
vg0235290910 8.70E-07 NA mr1771_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
vg0235290910 NA 4.92E-12 mr1771_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
vg0235290910 6.03E-06 NA mr1784_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
vg0235290910 NA 1.31E-11 mr1784_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
vg0235290910 NA 9.43E-10 mr1800_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
vg0235290910 NA 1.46E-09 mr1862_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