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Detailed information for vg0333207813:

Variant ID: vg0333207813 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 33207813
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGTCACATTTCTATTAGATTAATTTATTCTAGGACGAAAGACTATGGTACATTTAATAAAGGCCAGCTTCTGCCGTAATGGAGCGGAGGCCCGTCGCCGG[G/A]
AGGCTTGGGCCGGAGCGTAGCGGATCGTCATCCCTTTTAGAGTTCCATCATATATATACCTCTTGTAAGCCGCCGTGCGGCGATGTAACCTCACCCCAGA

Reverse complement sequence

TCTGGGGTGAGGTTACATCGCCGCACGGCGGCTTACAAGAGGTATATATATGATGGAACTCTAAAAGGGATGACGATCCGCTACGCTCCGGCCCAAGCCT[C/T]
CCGGCGACGGGCCTCCGCTCCATTACGGCAGAAGCTGGCCTTTATTAAATGTACCATAGTCTTTCGTCCTAGAATAAATTAATCTAATAGAAATGTGACA

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 57.10% 26.40% 9.90% 6.58% NA
All Indica  2759 27.60% 44.70% 16.67% 11.09% NA
All Japonica  1512 99.70% 0.10% 0.13% 0.00% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 14.30% 45.00% 33.11% 7.56% NA
Indica II  465 57.60% 27.70% 8.82% 5.81% NA
Indica III  913 14.50% 57.50% 11.50% 16.54% NA
Indica Intermediate  786 35.10% 39.40% 14.89% 10.56% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.20% 0.20% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.41% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 75.60% 13.30% 6.67% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0333207813 G -> A LOC_Os03g58290.1 3_prime_UTR_variant ; 298.0bp to feature; MODIFIER silent_mutation Average:57.656; most accessible tissue: Minghui63 young leaf, score: 84.814 N N N N
vg0333207813 G -> A LOC_Os03g58270.1 upstream_gene_variant ; 4536.0bp to feature; MODIFIER silent_mutation Average:57.656; most accessible tissue: Minghui63 young leaf, score: 84.814 N N N N
vg0333207813 G -> A LOC_Os03g58280.1 downstream_gene_variant ; 647.0bp to feature; MODIFIER silent_mutation Average:57.656; most accessible tissue: Minghui63 young leaf, score: 84.814 N N N N
vg0333207813 G -> DEL N N silent_mutation Average:57.656; most accessible tissue: Minghui63 young leaf, score: 84.814 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)
vg0333207813 G A -0.01 -0.01 -0.01 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0333207813 3.83E-08 NA mr1723 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
vg0333207813 1.62E-07 1.37E-09 mr1723 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
vg0333207813 NA 9.81E-07 mr1062_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
vg0333207813 1.47E-11 4.34E-37 mr1723_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
vg0333207813 2.71E-10 1.86E-13 mr1723_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
vg0333207813 NA 6.67E-06 mr1910_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