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Detailed information for vg1003360615:

Variant ID: vg1003360615 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 3360615
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.96, A: 0.05, others allele: 0.00, population size: 94. )

Flanking Sequence (100 bp) in Reference Genome:


CAACGAGATTCGATGGATGGATTAGGGGGGTTTGGATCGAGATTTTTCAGAATTTGCCACTTCAGGATATGCCATCCAATTCGTACTATTTTCAGAATAT[G/A]
CCACTGGGATGCGAATTTTCTTCGTTATGTACCACTCCGTCCACTGACGTCACTCCTCGTCCTCGTCTGTCCGTCTGCCGCCCCGTCTATCCGCCGACGC

Reverse complement sequence

GCGTCGGCGGATAGACGGGGCGGCAGACGGACAGACGAGGACGAGGAGTGACGTCAGTGGACGGAGTGGTACATAACGAAGAAAATTCGCATCCCAGTGG[C/T]
ATATTCTGAAAATAGTACGAATTGGATGGCATATCCTGAAGTGGCAAATTCTGAAAAATCTCGATCCAAACCCCCCTAATCCATCCATCGAATCTCGTTG

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 89.80% 10.10% 0.15% 0.00% NA
All Indica  2759 91.00% 8.70% 0.25% 0.00% NA
All Japonica  1512 99.30% 0.70% 0.00% 0.00% NA
Aus  269 21.60% 78.40% 0.00% 0.00% NA
Indica I  595 98.20% 1.30% 0.50% 0.00% NA
Indica II  465 75.30% 24.50% 0.22% 0.00% NA
Indica III  913 95.40% 4.50% 0.11% 0.00% NA
Indica Intermediate  786 89.90% 9.80% 0.25% 0.00% NA
Temperate Japonica  767 99.50% 0.50% 0.00% 0.00% NA
Tropical Japonica  504 98.80% 1.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 85.60% 14.40% 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
vg1003360615 G -> A LOC_Os10g06540.1 upstream_gene_variant ; 61.0bp to feature; MODIFIER silent_mutation Average:97.821; most accessible tissue: Zhenshan97 panicle, score: 98.974 N N N N
vg1003360615 G -> A LOC_Os10g06550.1 upstream_gene_variant ; 2828.0bp to feature; MODIFIER silent_mutation Average:97.821; most accessible tissue: Zhenshan97 panicle, score: 98.974 N N N N
vg1003360615 G -> A LOC_Os10g06540.2 upstream_gene_variant ; 61.0bp to feature; MODIFIER silent_mutation Average:97.821; most accessible tissue: Zhenshan97 panicle, score: 98.974 N N N N
vg1003360615 G -> A LOC_Os10g06540-LOC_Os10g06550 intergenic_region ; MODIFIER silent_mutation Average:97.821; most accessible tissue: Zhenshan97 panicle, score: 98.974 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)
vg1003360615 G A 0.08 0.11 0.09 0.1 0.07 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1003360615 7.93E-08 7.93E-08 mr1008 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
vg1003360615 2.92E-07 2.92E-07 mr1009 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
vg1003360615 NA 5.86E-06 mr1069 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
vg1003360615 NA 7.94E-08 mr1877 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
vg1003360615 NA 1.35E-09 mr1709_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