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Detailed information for vg1006976423:

Variant ID: vg1006976423 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 6976423
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAAAGCAATGTCCTCCCTAACTACGGCCCAAGCCCAACAACTGATCAGTGGTCGGTTCATCATCCTCGTAGGGCACACCCACGACACGGCCGCCGCCGCC[G/A]
TAGTATCAGGGAGGGATTAAGTGAAAACGTGAGAGGCGGCCGCACCGTCGTCTCCACGCTGACTACGGCACTACGCCAATAGGCTGCGGTCTGCGGACAC

Reverse complement sequence

GTGTCCGCAGACCGCAGCCTATTGGCGTAGTGCCGTAGTCAGCGTGGAGACGACGGTGCGGCCGCCTCTCACGTTTTCACTTAATCCCTCCCTGATACTA[C/T]
GGCGGCGGCGGCCGTGTCGTGGGTGTGCCCTACGAGGATGATGAACCGACCACTGATCAGTTGTTGGGCTTGGGCCGTAGTTAGGGAGGACATTGCTTTA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.20% 24.30% 0.19% 0.32% NA
All Indica  2759 98.00% 1.90% 0.04% 0.04% NA
All Japonica  1512 31.40% 68.50% 0.00% 0.07% NA
Aus  269 98.10% 1.90% 0.00% 0.00% NA
Indica I  595 99.00% 1.00% 0.00% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 97.30% 2.50% 0.11% 0.11% NA
Indica Intermediate  786 98.20% 1.80% 0.00% 0.00% NA
Temperate Japonica  767 16.20% 83.80% 0.00% 0.00% NA
Tropical Japonica  504 50.00% 50.00% 0.00% 0.00% NA
Japonica Intermediate  241 41.10% 58.50% 0.00% 0.41% NA
VI/Aromatic  96 55.20% 27.10% 7.29% 10.42% NA
Intermediate  90 61.10% 34.40% 1.11% 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
vg1006976423 G -> A LOC_Os10g12530.1 upstream_gene_variant ; 4322.0bp to feature; MODIFIER silent_mutation Average:74.22; most accessible tissue: Zhenshan97 young leaf, score: 88.878 N N N N
vg1006976423 G -> A LOC_Os10g12539.1 downstream_gene_variant ; 1900.0bp to feature; MODIFIER silent_mutation Average:74.22; most accessible tissue: Zhenshan97 young leaf, score: 88.878 N N N N
vg1006976423 G -> A LOC_Os10g12548.1 downstream_gene_variant ; 3062.0bp to feature; MODIFIER silent_mutation Average:74.22; most accessible tissue: Zhenshan97 young leaf, score: 88.878 N N N N
vg1006976423 G -> A LOC_Os10g12530-LOC_Os10g12539 intergenic_region ; MODIFIER silent_mutation Average:74.22; most accessible tissue: Zhenshan97 young leaf, score: 88.878 N N N N
vg1006976423 G -> DEL N N silent_mutation Average:74.22; most accessible tissue: Zhenshan97 young leaf, score: 88.878 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)
vg1006976423 G A -0.43 -0.19 -0.12 -0.25 -0.26 -0.24

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1006976423 NA 8.48E-10 mr1622 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
vg1006976423 NA 5.27E-09 mr1806 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
vg1006976423 NA 2.60E-12 mr1986 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
vg1006976423 NA 6.10E-12 mr1986_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