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Detailed information for vg1002259298:

Variant ID: vg1002259298 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 2259298
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGCTGGGTCGGCCCATCGTGCCGAGGGTGAGGCCCAAGCACGGCCCAAAAATCGGGCAATGCCATACTTTAATTTGGTCAGGCCAAAACCCCGTGCCATG[G/A]
GCCAAGCCGTCGGGCCTCTGGCCTTTTGGCCAACTATATCCACGACGGAGGCAATGGAGGGGATTGAGAGGGAATATATAATCCCTATGTAAATCTCTCT

Reverse complement sequence

AGAGAGATTTACATAGGGATTATATATTCCCTCTCAATCCCCTCCATTGCCTCCGTCGTGGATATAGTTGGCCAAAAGGCCAGAGGCCCGACGGCTTGGC[C/T]
CATGGCACGGGGTTTTGGCCTGACCAAATTAAAGTATGGCATTGCCCGATTTTTGGGCCGTGCTTGGGCCTCACCCTCGGCACGATGGGCCGACCCAGCA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 86.40% 12.30% 0.04% 1.27% NA
All Indica  2759 98.20% 0.90% 0.04% 0.87% NA
All Japonica  1512 64.20% 35.60% 0.07% 0.07% NA
Aus  269 90.00% 0.00% 0.00% 10.04% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 96.20% 1.40% 0.11% 2.30% NA
Indica Intermediate  786 98.20% 1.40% 0.00% 0.38% NA
Temperate Japonica  767 89.70% 10.30% 0.00% 0.00% NA
Tropical Japonica  504 28.40% 71.60% 0.00% 0.00% NA
Japonica Intermediate  241 58.10% 41.10% 0.41% 0.41% NA
VI/Aromatic  96 87.50% 7.30% 0.00% 5.21% NA
Intermediate  90 84.40% 12.20% 0.00% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1002259298 G -> A LOC_Os10g04730.1 intron_variant ; MODIFIER silent_mutation Average:82.491; most accessible tissue: Minghui63 panicle, score: 89.702 N N N N
vg1002259298 G -> DEL N N silent_mutation Average:82.491; most accessible tissue: Minghui63 panicle, score: 89.702 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)
vg1002259298 G A -0.03 -0.06 -0.05 -0.05 -0.05 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1002259298 7.59E-09 NA mr1758_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
vg1002259298 NA 2.10E-08 mr1758_2 Jap_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