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Detailed information for vg0224961108:

Variant ID: vg0224961108 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24961108
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 268. )

Flanking Sequence (100 bp) in Reference Genome:


ATATATAGCTCGCTGCTCTTCTCTCTTCTCGTTTATCTCCTCGAAATAAGTTTATAGCTGGCTTATAGTTTGCTATTGTACTTGCTCTGAGAGAAAGTTG[C/T]
CTGGCTAGAGACATGCCCGAGACTATTTTGTGAGTGTTTGGTTGCTACCCACGAGAGAGGGGTTGGGAACAAGGGGTTGCAATCACAGCCTGAGTCTCCT

Reverse complement sequence

AGGAGACTCAGGCTGTGATTGCAACCCCTTGTTCCCAACCCCTCTCTCGTGGGTAGCAACCAAACACTCACAAAATAGTCTCGGGCATGTCTCTAGCCAG[G/A]
CAACTTTCTCTCAGAGCAAGTACAATAGCAAACTATAAGCCAGCTATAAACTTATTTCGAGGAGATAAACGAGAAGAGAGAAGAGCAGCGAGCTATATAT

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 91.20% 8.30% 0.53% 0.00% NA
All Indica  2759 95.00% 4.90% 0.11% 0.00% NA
All Japonica  1512 82.90% 15.70% 1.32% 0.00% NA
Aus  269 95.20% 4.80% 0.00% 0.00% NA
Indica I  595 95.60% 4.20% 0.17% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 91.30% 8.70% 0.00% 0.00% NA
Indica Intermediate  786 96.30% 3.40% 0.25% 0.00% NA
Temperate Japonica  767 88.00% 10.40% 1.56% 0.00% NA
Tropical Japonica  504 81.20% 18.10% 0.79% 0.00% NA
Japonica Intermediate  241 70.50% 27.80% 1.66% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 91.10% 6.70% 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
vg0224961108 C -> T LOC_Os02g41620.1 upstream_gene_variant ; 1331.0bp to feature; MODIFIER silent_mutation Average:79.17; most accessible tissue: Zhenshan97 panicle, score: 86.788 N N N N
vg0224961108 C -> T LOC_Os02g41610.1 downstream_gene_variant ; 850.0bp to feature; MODIFIER silent_mutation Average:79.17; most accessible tissue: Zhenshan97 panicle, score: 86.788 N N N N
vg0224961108 C -> T LOC_Os02g41610-LOC_Os02g41620 intergenic_region ; MODIFIER silent_mutation Average:79.17; most accessible tissue: Zhenshan97 panicle, score: 86.788 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)
vg0224961108 C T -0.04 0.0 0.0 -0.04 -0.05 -0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224961108 3.48E-07 1.29E-08 mr1718_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