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Detailed information for vg0421520546:

Variant ID: vg0421520546 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 21520546
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 322. )

Flanking Sequence (100 bp) in Reference Genome:


CACCCTAAATTTTGTATGGCAACTGGAGCAGTTCCAATTCTTCCTTGTGGATTTGCACAATTCTCCCATTTCGTGCATGAGTGCCTGTCATCCTTGCACA[G/A]
CATCATTGCTTGATGTTGTGTTGCCACCTAACTCATTAGCATAAACAAAAGGATGAACAGGAGCTAAGCATCTTACCCACTATAGGAGCATTACTTGATG

Reverse complement sequence

CATCAAGTAATGCTCCTATAGTGGGTAAGATGCTTAGCTCCTGTTCATCCTTTTGTTTATGCTAATGAGTTAGGTGGCAACACAACATCAAGCAATGATG[C/T]
TGTGCAAGGATGACAGGCACTCATGCACGAAATGGGAGAATTGTGCAAATCCACAAGGAAGAATTGGAACTGCTCCAGTTGCCATACAAAATTTAGGGTG

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 91.10% 7.60% 1.31% 0.00% NA
All Indica  2759 99.20% 0.50% 0.33% 0.00% NA
All Japonica  1512 75.10% 21.90% 2.98% 0.00% NA
Aus  269 99.30% 0.00% 0.74% 0.00% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 98.10% 1.30% 0.65% 0.00% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 98.70% 0.60% 0.64% 0.00% NA
Temperate Japonica  767 95.80% 2.10% 2.09% 0.00% NA
Tropical Japonica  504 36.90% 58.10% 4.96% 0.00% NA
Japonica Intermediate  241 89.20% 9.10% 1.66% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 77.80% 15.60% 6.67% 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
vg0421520546 G -> A LOC_Os04g35390.1 upstream_gene_variant ; 4983.0bp to feature; MODIFIER silent_mutation Average:66.22; most accessible tissue: Minghui63 root, score: 81.14 N N N N
vg0421520546 G -> A LOC_Os04g35380.1 downstream_gene_variant ; 1515.0bp to feature; MODIFIER silent_mutation Average:66.22; most accessible tissue: Minghui63 root, score: 81.14 N N N N
vg0421520546 G -> A LOC_Os04g35380.4 downstream_gene_variant ; 1650.0bp to feature; MODIFIER silent_mutation Average:66.22; most accessible tissue: Minghui63 root, score: 81.14 N N N N
vg0421520546 G -> A LOC_Os04g35380.2 downstream_gene_variant ; 1515.0bp to feature; MODIFIER silent_mutation Average:66.22; most accessible tissue: Minghui63 root, score: 81.14 N N N N
vg0421520546 G -> A LOC_Os04g35380.5 downstream_gene_variant ; 1515.0bp to feature; MODIFIER silent_mutation Average:66.22; most accessible tissue: Minghui63 root, score: 81.14 N N N N
vg0421520546 G -> A LOC_Os04g35380-LOC_Os04g35390 intergenic_region ; MODIFIER silent_mutation Average:66.22; most accessible tissue: Minghui63 root, score: 81.14 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)
vg0421520546 G A -0.06 -0.01 -0.03 -0.07 -0.06 -0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0421520546 NA 3.35E-06 mr1213 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
vg0421520546 NA 1.48E-08 mr1248 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
vg0421520546 NA 1.55E-08 mr1248 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
vg0421520546 NA 1.67E-06 mr1338 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
vg0421520546 NA 5.26E-09 mr1539 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
vg0421520546 NA 2.90E-07 mr1742 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
vg0421520546 7.65E-06 1.33E-11 mr1769 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
vg0421520546 NA 1.65E-14 mr1769 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
vg0421520546 NA 1.03E-06 mr1800 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
vg0421520546 NA 2.85E-08 mr1800 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
vg0421520546 1.21E-06 1.77E-08 mr1951 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
vg0421520546 4.88E-06 5.75E-10 mr1951 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
vg0421520546 NA 8.60E-11 mr1769_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