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Detailed information for vg0801515970:

Variant ID: vg0801515970 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 1515970
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, T: 0.01, others allele: 0.00, population size: 107. )

Flanking Sequence (100 bp) in Reference Genome:


TCGCCTTCGCCGCCGCGTGCGCGCCGCGCTCGGCTGCTTCTTGCGCCGCCGCGATGTCTTCGGTTGCCTCCACGCGGAAACGCTCGCGCTCCACCTCAAT[G/T]
GACGGCTCCGTGTTGGTGGCCACCTCCACTGGTCTTTGCACTACGGCGTGCTCGCCGGCGACGACCATCTGCTGCCGACTCGCGGTGTCGCGGTATGTGC

Reverse complement sequence

GCACATACCGCGACACCGCGAGTCGGCAGCAGATGGTCGTCGCCGGCGAGCACGCCGTAGTGCAAAGACCAGTGGAGGTGGCCACCAACACGGAGCCGTC[C/A]
ATTGAGGTGGAGCGCGAGCGTTTCCGCGTGGAGGCAACCGAAGACATCGCGGCGGCGCAAGAAGCAGCCGAGCGCGGCGCGCACGCGGCGGCGAAGGCGA

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 67.70% 11.50% 6.20% 14.56% NA
All Indica  2759 49.80% 16.10% 10.08% 24.07% NA
All Japonica  1512 97.60% 0.90% 0.60% 0.93% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 38.30% 8.40% 13.78% 39.50% NA
Indica II  465 19.10% 24.70% 15.91% 40.22% NA
Indica III  913 73.50% 15.70% 2.41% 8.43% NA
Indica Intermediate  786 49.00% 17.30% 12.72% 20.99% NA
Temperate Japonica  767 96.50% 1.40% 0.52% 1.56% NA
Tropical Japonica  504 99.40% 0.00% 0.40% 0.20% NA
Japonica Intermediate  241 97.10% 1.20% 1.24% 0.41% NA
VI/Aromatic  96 16.70% 81.20% 0.00% 2.08% NA
Intermediate  90 76.70% 7.80% 6.67% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0801515970 G -> T LOC_Os08g03270.1 synonymous_variant ; p.Ser530Ser; LOW synonymous_codon Average:85.11; most accessible tissue: Minghui63 panicle, score: 92.526 N N N N
vg0801515970 G -> DEL LOC_Os08g03270.1 N frameshift_variant Average:85.11; most accessible tissue: Minghui63 panicle, score: 92.526 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)
vg0801515970 G T -0.03 -0.03 -0.03 -0.03 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0801515970 2.87E-06 1.86E-08 mr1739 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
vg0801515970 NA 1.90E-11 mr1739 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
vg0801515970 1.35E-06 1.35E-06 mr1289_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
vg0801515970 NA 6.06E-06 mr1483_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
vg0801515970 5.76E-06 NA mr1494_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