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Detailed information for vg0306242443:

Variant ID: vg0306242443 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 6242443
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTACAGAATCTGTCAGTAAATCGCGAGATGAATTTATTAAGACTAATTAATCTGTCATTAATAAATGTTTACTGTAGCAACATATTGTCAAATTATGTG[G/A]
CAATTAGGCTTAAAAAATTTGTCTCGCAAATTAGTTGCAATCTGTGCAATTAGTTATTTTTAGCATATATTTAATACTTCATGTAGATGTTCAAACGTTC

Reverse complement sequence

GAACGTTTGAACATCTACATGAAGTATTAAATATATGCTAAAAATAACTAATTGCACAGATTGCAACTAATTTGCGAGACAAATTTTTTAAGCCTAATTG[C/T]
CACATAATTTGACAATATGTTGCTACAGTAAACATTTATTAATGACAGATTAATTAGTCTTAATAAATTCATCTCGCGATTTACTGACAGATTCTGTAAT

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 87.10% 3.20% 0.47% 9.25% NA
All Indica  2759 83.90% 0.10% 0.29% 15.73% NA
All Japonica  1512 89.30% 9.70% 0.86% 0.13% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 53.80% 0.00% 0.50% 45.71% NA
Indica II  465 99.10% 0.20% 0.00% 0.65% NA
Indica III  913 94.00% 0.00% 0.00% 6.02% NA
Indica Intermediate  786 85.90% 0.30% 0.64% 13.23% NA
Temperate Japonica  767 99.20% 0.10% 0.39% 0.26% NA
Tropical Japonica  504 69.80% 28.40% 1.79% 0.00% NA
Japonica Intermediate  241 98.30% 1.20% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 3.30% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0306242443 G -> A LOC_Os03g11900.1 upstream_gene_variant ; 4146.0bp to feature; MODIFIER silent_mutation Average:65.036; most accessible tissue: Zhenshan97 flag leaf, score: 95.246 N N N N
vg0306242443 G -> A LOC_Os03g11910.1 downstream_gene_variant ; 1547.0bp to feature; MODIFIER silent_mutation Average:65.036; most accessible tissue: Zhenshan97 flag leaf, score: 95.246 N N N N
vg0306242443 G -> A LOC_Os03g11910.2 downstream_gene_variant ; 1547.0bp to feature; MODIFIER silent_mutation Average:65.036; most accessible tissue: Zhenshan97 flag leaf, score: 95.246 N N N N
vg0306242443 G -> A LOC_Os03g11900-LOC_Os03g11910 intergenic_region ; MODIFIER silent_mutation Average:65.036; most accessible tissue: Zhenshan97 flag leaf, score: 95.246 N N N N
vg0306242443 G -> DEL N N silent_mutation Average:65.036; most accessible tissue: Zhenshan97 flag leaf, score: 95.246 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)
vg0306242443 G A 0.02 0.01 0.02 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0306242443 NA 1.41E-07 mr1042_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
vg0306242443 NA 3.31E-07 mr1047_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
vg0306242443 NA 9.98E-09 mr1742_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
vg0306242443 2.63E-07 2.40E-12 mr1798_2 Jap_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