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Detailed information for vg0907333374:

Variant ID: vg0907333374 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 7333374
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, T: 0.00, others allele: 0.00, population size: 236. )

Flanking Sequence (100 bp) in Reference Genome:


ATGGTTACTTTTCTCCATAATTTCTTGTGTTCTGTCCATAATTTCTGTGTGATTACTGGAAGCTTCTATTATGTGCTGATGGCATGTACTTCTTTTCGTC[C/T]
CTAAAAAACAAATCTAGTATATAATATGACACATTCCAATATTACGAATCTAGATAGAGATATGATGGGGTATTCGAGAAAAGAGAAACAAAAGATATTC

Reverse complement sequence

GAATATCTTTTGTTTCTCTTTTCTCGAATACCCCATCATATCTCTATCTAGATTCGTAATATTGGAATGTGTCATATTATATACTAGATTTGTTTTTTAG[G/A]
GACGAAAAGAAGTACATGCCATCAGCACATAATAGAAGCTTCCAGTAATCACACAGAAATTATGGACAGAACACAAGAAATTATGGAGAAAAGTAACCAT

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 65.80% 3.60% 14.83% 15.72% NA
All Indica  2759 54.20% 6.10% 19.54% 20.26% NA
All Japonica  1512 87.20% 0.30% 6.08% 6.48% NA
Aus  269 59.90% 0.00% 21.19% 18.96% NA
Indica I  595 61.30% 19.80% 13.95% 4.87% NA
Indica II  465 30.80% 1.70% 26.45% 41.08% NA
Indica III  913 66.30% 0.20% 15.22% 18.29% NA
Indica Intermediate  786 48.50% 5.00% 24.68% 21.88% NA
Temperate Japonica  767 77.70% 0.30% 11.08% 10.95% NA
Tropical Japonica  504 99.20% 0.40% 0.00% 0.40% NA
Japonica Intermediate  241 92.10% 0.00% 2.90% 4.98% NA
VI/Aromatic  96 70.80% 0.00% 2.08% 27.08% NA
Intermediate  90 76.70% 1.10% 12.22% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0907333374 C -> DEL N N silent_mutation Average:76.46; most accessible tissue: Minghui63 flag leaf, score: 88.223 N N N N
vg0907333374 C -> T LOC_Os09g12780.1 upstream_gene_variant ; 797.0bp to feature; MODIFIER silent_mutation Average:76.46; most accessible tissue: Minghui63 flag leaf, score: 88.223 N N N N
vg0907333374 C -> T LOC_Os09g12770.1 downstream_gene_variant ; 84.0bp to feature; MODIFIER silent_mutation Average:76.46; most accessible tissue: Minghui63 flag leaf, score: 88.223 N N N N
vg0907333374 C -> T LOC_Os09g12790.1 downstream_gene_variant ; 3000.0bp to feature; MODIFIER silent_mutation Average:76.46; most accessible tissue: Minghui63 flag leaf, score: 88.223 N N N N
vg0907333374 C -> T LOC_Os09g12770.2 downstream_gene_variant ; 84.0bp to feature; MODIFIER silent_mutation Average:76.46; most accessible tissue: Minghui63 flag leaf, score: 88.223 N N N N
vg0907333374 C -> T LOC_Os09g12770-LOC_Os09g12780 intergenic_region ; MODIFIER silent_mutation Average:76.46; most accessible tissue: Minghui63 flag leaf, score: 88.223 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)
vg0907333374 C T -0.01 -0.01 -0.01 -0.01 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0907333374 1.29E-07 2.45E-09 mr1172_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
vg0907333374 3.76E-06 4.53E-06 mr1172_2 Ind_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