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Detailed information for vg0900796344:

Variant ID: vg0900796344 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 796344
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.65, C: 0.35, others allele: 0.00, population size: 105. )

Flanking Sequence (100 bp) in Reference Genome:


ACGGGATCCGTGCGGGAGGGGAAGAGGTCGCCGGATCCGCCCCTCCCGTCGCCGCCAATGGTTGATCCGCGCGAGAGGGAGACGAAGAGACGACGGGATC[T/C]
AGGTGTCGGTGGTGGATCCGCACGGGCAGCATCAACGGCTTGGAACCGTTGCATGAGGAGGCCTTGCCGTCGCCCCCAGTCAGCCACTACGCTTCTTCAT

Reverse complement sequence

ATGAAGAAGCGTAGTGGCTGACTGGGGGCGACGGCAAGGCCTCCTCATGCAACGGTTCCAAGCCGTTGATGCTGCCCGTGCGGATCCACCACCGACACCT[A/G]
GATCCCGTCGTCTCTTCGTCTCCCTCTCGCGCGGATCAACCATTGGCGGCGACGGGAGGGGCGGATCCGGCGACCTCTTCCCCTCCCGCACGGATCCCGT

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 57.40% 29.90% 3.24% 9.48% NA
All Indica  2759 83.50% 12.30% 3.95% 0.29% NA
All Japonica  1512 1.50% 67.50% 2.45% 28.51% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 86.10% 5.70% 8.24% 0.00% NA
Indica II  465 73.50% 20.20% 6.02% 0.22% NA
Indica III  913 88.10% 11.00% 0.66% 0.33% NA
Indica Intermediate  786 82.20% 14.00% 3.31% 0.51% NA
Temperate Japonica  767 0.70% 95.60% 0.39% 3.39% NA
Tropical Japonica  504 2.00% 22.20% 6.35% 69.44% NA
Japonica Intermediate  241 3.30% 73.00% 0.83% 22.82% NA
VI/Aromatic  96 83.30% 16.70% 0.00% 0.00% NA
Intermediate  90 43.30% 38.90% 7.78% 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
vg0900796344 T -> DEL N N silent_mutation Average:73.731; most accessible tissue: Minghui63 panicle, score: 93.053 N N N N
vg0900796344 T -> C LOC_Os09g02120.1 upstream_gene_variant ; 1677.0bp to feature; MODIFIER silent_mutation Average:73.731; most accessible tissue: Minghui63 panicle, score: 93.053 N N N N
vg0900796344 T -> C LOC_Os09g02130.1 upstream_gene_variant ; 3143.0bp to feature; MODIFIER silent_mutation Average:73.731; most accessible tissue: Minghui63 panicle, score: 93.053 N N N N
vg0900796344 T -> C LOC_Os09g02110.1 downstream_gene_variant ; 3544.0bp to feature; MODIFIER silent_mutation Average:73.731; most accessible tissue: Minghui63 panicle, score: 93.053 N N N N
vg0900796344 T -> C LOC_Os09g02110-LOC_Os09g02120 intergenic_region ; MODIFIER silent_mutation Average:73.731; most accessible tissue: Minghui63 panicle, score: 93.053 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)
vg0900796344 T C 0.01 0.01 0.01 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0900796344 NA 1.26E-22 mr1122 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
vg0900796344 NA 4.67E-47 mr1141 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
vg0900796344 NA 1.68E-09 mr1191 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
vg0900796344 NA 1.33E-20 mr1168_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
vg0900796344 NA 1.10E-06 mr1574_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
vg0900796344 NA 9.00E-15 mr1726_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
vg0900796344 NA 1.09E-18 mr1730_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
vg0900796344 NA 4.36E-08 mr1765_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
vg0900796344 NA 4.23E-10 mr1806_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
vg0900796344 NA 5.24E-22 mr1817_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
vg0900796344 NA 4.76E-17 mr1866_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
vg0900796344 NA 6.66E-14 mr1950_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