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Detailed information for vg0134963133:

Variant ID: vg0134963133 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 34963133
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.92, A: 0.08, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


TCGCCGTTGAGCGCCTTGAGGCGGAGGAACAGCGGGTCGTCCGCGCTCTCGAACCGGCGGTCGAACATGATGCGGTACACGTTGCTGTACATCATGAGCT[G/A]
CAGGCGGCGGCGGCGGGGTCGGCGCGGAGGCCGTCCACCACGGCCGCGGCCTCGGCCTCCCACCCGGCGCGGTGCCGCTGCACCACCTTGCCGGTGAAGA

Reverse complement sequence

TCTTCACCGGCAAGGTGGTGCAGCGGCACCGCGCCGGGTGGGAGGCCGAGGCCGCGGCCGTGGTGGACGGCCTCCGCGCCGACCCCGCCGCCGCCGCCTG[C/T]
AGCTCATGATGTACAGCAACGTGTACCGCATCATGTTCGACCGCCGGTTCGAGAGCGCGGACGACCCGCTGTTCCTCCGCCTCAAGGCGCTCAACGGCGA

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 51.80% 48.00% 0.23% 0.00% NA
All Indica  2759 22.80% 76.80% 0.40% 0.00% NA
All Japonica  1512 98.10% 1.90% 0.00% 0.00% NA
Aus  269 65.80% 34.20% 0.00% 0.00% NA
Indica I  595 10.30% 89.70% 0.00% 0.00% NA
Indica II  465 5.20% 94.40% 0.43% 0.00% NA
Indica III  913 31.10% 68.50% 0.44% 0.00% NA
Indica Intermediate  786 33.10% 66.30% 0.64% 0.00% NA
Temperate Japonica  767 98.40% 1.60% 0.00% 0.00% NA
Tropical Japonica  504 97.60% 2.40% 0.00% 0.00% NA
Japonica Intermediate  241 98.30% 1.70% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 68.90% 31.10% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0134963133 G -> A LOC_Os01g60450.1 splice_region_variant&intron_variant ; LOW silent_mutation Average:79.388; most accessible tissue: Minghui63 flag leaf, score: 91.625 N N N N
vg0134963133 G -> A LOC_Os01g60440.1 upstream_gene_variant ; 3778.0bp to feature; MODIFIER silent_mutation Average:79.388; most accessible tissue: Minghui63 flag leaf, score: 91.625 N N N N
vg0134963133 G -> A LOC_Os01g60460.1 downstream_gene_variant ; 1010.0bp to feature; MODIFIER silent_mutation Average:79.388; most accessible tissue: Minghui63 flag leaf, score: 91.625 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)
vg0134963133 G A 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
vg0134963133 NA 4.91E-06 mr1003 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
vg0134963133 2.57E-06 4.01E-07 mr1008 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
vg0134963133 2.01E-06 3.25E-06 mr1009 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
vg0134963133 NA 6.80E-07 mr1527 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
vg0134963133 NA 5.71E-20 mr1580 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
vg0134963133 4.08E-06 NA mr1008_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
vg0134963133 4.39E-07 6.05E-08 mr1008_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
vg0134963133 NA 1.01E-10 mr1027_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
vg0134963133 NA 2.54E-06 mr1051_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
vg0134963133 NA 3.75E-08 mr1335_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
vg0134963133 NA 3.95E-12 mr1553_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