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Detailed information for vg0224289132:

Variant ID: vg0224289132 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24289132
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: 0.00, others allele: 0.00, population size: 191. )

Flanking Sequence (100 bp) in Reference Genome:


ATAAATTAGGATCCTTGTTATGAGAGTAAAATCATTAGCAGCTGACATCAGAGAGTCGGCATAGCAGAGAGTGACATAAATTAGGCACCAAACCAACACA[C/T]
GATAAATGCAGTTTATGAAATTCAATAAATCCGTAACATGAGCCGTGACTTACCGATGATGGTGCAGGTCACAACGGTCGCAGAGTCGTAGTCGTCGTAG

Reverse complement sequence

CTACGACGACTACGACTCTGCGACCGTTGTGACCTGCACCATCATCGGTAAGTCACGGCTCATGTTACGGATTTATTGAATTTCATAAACTGCATTTATC[G/A]
TGTGTTGGTTTGGTGCCTAATTTATGTCACTCTCTGCTATGCCGACTCTCTGATGTCAGCTGCTAATGATTTTACTCTCATAACAAGGATCCTAATTTAT

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 90.20% 9.10% 0.72% 0.00% NA
All Indica  2759 92.90% 7.00% 0.04% 0.00% NA
All Japonica  1512 85.30% 12.50% 2.18% 0.00% NA
Aus  269 89.60% 10.40% 0.00% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 82.80% 17.00% 0.22% 0.00% NA
Indica III  913 95.90% 4.10% 0.00% 0.00% NA
Indica Intermediate  786 90.30% 9.70% 0.00% 0.00% NA
Temperate Japonica  767 83.60% 13.30% 3.13% 0.00% NA
Tropical Japonica  504 91.70% 7.30% 0.99% 0.00% NA
Japonica Intermediate  241 77.60% 20.70% 1.66% 0.00% NA
VI/Aromatic  96 88.50% 11.50% 0.00% 0.00% NA
Intermediate  90 90.00% 10.00% 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
vg0224289132 C -> T LOC_Os02g40110.1 upstream_gene_variant ; 4328.0bp to feature; MODIFIER silent_mutation Average:80.191; most accessible tissue: Zhenshan97 flower, score: 89.362 N N N N
vg0224289132 C -> T LOC_Os02g40130.1 upstream_gene_variant ; 4003.0bp to feature; MODIFIER silent_mutation Average:80.191; most accessible tissue: Zhenshan97 flower, score: 89.362 N N N N
vg0224289132 C -> T LOC_Os02g40120.1 intron_variant ; MODIFIER silent_mutation Average:80.191; most accessible tissue: Zhenshan97 flower, score: 89.362 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)
vg0224289132 C T -0.04 -0.03 -0.05 -0.03 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224289132 4.04E-06 2.51E-06 mr1034 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
vg0224289132 NA 1.01E-06 mr1069 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
vg0224289132 NA 9.15E-08 mr1149 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
vg0224289132 NA 7.31E-07 mr1667 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
vg0224289132 NA 4.99E-06 mr1868 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
vg0224289132 4.71E-06 3.48E-11 mr1072_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
vg0224289132 NA 4.99E-10 mr1075_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
vg0224289132 NA 3.32E-10 mr1077_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
vg0224289132 NA 4.54E-08 mr1124_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
vg0224289132 NA 3.44E-10 mr1149_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
vg0224289132 NA 5.76E-06 mr1406_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
vg0224289132 NA 1.11E-09 mr1441_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
vg0224289132 NA 1.85E-07 mr1592_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
vg0224289132 8.98E-06 5.53E-09 mr1861_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