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Detailed information for vg1016432531:

Variant ID: vg1016432531 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 16432531
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, A: 0.01, others allele: 0.00, population size: 73. )

Flanking Sequence (100 bp) in Reference Genome:


TGCCAAAATTTTGATAGGATTTCTTATATAGTTACCAAAATTTGGTAGCACACTAAATGTAGCCACTTTTTTGGCAACTTTACCAAAATTTGGTAAGGTT[G/A]
AAAATGGTATTAAAGTGAACAGACCCTTAGTCTACACAGAGATATATCATCAAGGAGAGAACCTTTTTATTTCTGGATGCCAAGACAATCGCTGGCCATC

Reverse complement sequence

GATGGCCAGCGATTGTCTTGGCATCCAGAAATAAAAAGGTTCTCTCCTTGATGATATATCTCTGTGTAGACTAAGGGTCTGTTCACTTTAATACCATTTT[C/T]
AACCTTACCAAATTTTGGTAAAGTTGCCAAAAAAGTGGCTACATTTAGTGTGCTACCAAATTTTGGTAACTATATAAGAAATCCTATCAAAATTTTGGCA

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 37.90% 13.90% 10.30% 37.92% NA
All Indica  2759 28.20% 11.40% 14.79% 45.56% NA
All Japonica  1512 61.30% 0.80% 4.43% 33.47% NA
Aus  269 2.60% 94.10% 1.86% 1.49% NA
Indica I  595 25.50% 19.80% 15.80% 38.82% NA
Indica II  465 36.60% 3.00% 17.63% 42.80% NA
Indica III  913 24.90% 11.70% 11.83% 51.59% NA
Indica Intermediate  786 29.30% 9.70% 15.78% 45.29% NA
Temperate Japonica  767 89.40% 0.00% 0.39% 10.17% NA
Tropical Japonica  504 32.90% 1.40% 9.13% 56.55% NA
Japonica Intermediate  241 31.10% 2.10% 7.47% 59.34% NA
VI/Aromatic  96 32.30% 65.60% 1.04% 1.04% NA
Intermediate  90 52.20% 14.40% 6.67% 26.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1016432531 G -> A LOC_Os10g31330.1 upstream_gene_variant ; 2440.0bp to feature; MODIFIER silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 N N N N
vg1016432531 G -> A LOC_Os10g31330.2 upstream_gene_variant ; 2440.0bp to feature; MODIFIER silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 N N N N
vg1016432531 G -> A LOC_Os10g31330.3 upstream_gene_variant ; 2440.0bp to feature; MODIFIER silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 N N N N
vg1016432531 G -> A LOC_Os10g31330.5 upstream_gene_variant ; 2440.0bp to feature; MODIFIER silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 N N N N
vg1016432531 G -> A LOC_Os10g31330.6 upstream_gene_variant ; 2440.0bp to feature; MODIFIER silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 N N N N
vg1016432531 G -> A LOC_Os10g31330-LOC_Os10g31340 intergenic_region ; MODIFIER silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 N N N N
vg1016432531 G -> DEL N N silent_mutation Average:79.655; most accessible tissue: Minghui63 root, score: 91.83 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)
vg1016432531 G A 0.0 -0.02 -0.01 0.04 -0.01 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1016432531 NA 3.87E-06 mr1006 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
vg1016432531 NA 2.14E-06 mr1052 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
vg1016432531 NA 8.92E-06 mr1158_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
vg1016432531 2.88E-06 1.33E-06 mr1974_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