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Detailed information for vg0910245730:

Variant ID: vg0910245730 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 10245730
Reference Allele: AAlternative Allele: C,G
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.90, C: 0.10, others allele: 0.00, population size: 58. )

Flanking Sequence (100 bp) in Reference Genome:


CAGTAATCGAACTAGTGAGGCTCTCGGTTCAATGGTTCACTGGTTCAACCAGTTGAACTGTCAGTCTAAACCAGTTCAATACATGTTAAATATATTAATC[A/C,G]
TTCTATCCTAACACAAGCAACCTGGTAGCCTGGTGGTGGGGGGAGTTAACTCCCACACATGTGGTCGTGGGTTCGAATCCCACCCAGGCATATTTTCGCT

Reverse complement sequence

AGCGAAAATATGCCTGGGTGGGATTCGAACCCACGACCACATGTGTGGGAGTTAACTCCCCCCACCACCAGGCTACCAGGTTGCTTGTGTTAGGATAGAA[T/G,C]
GATTAATATATTTAACATGTATTGAACTGGTTTAGACTGACAGTTCAACTGGTTGAACCAGTGAACCATTGAACCGAGAGCCTCACTAGTTCGATTACTG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.10% 44.60% 1.82% 4.40% G: 0.02%
All Indica  2759 26.10% 63.50% 2.97% 7.39% NA
All Japonica  1512 93.10% 6.70% 0.07% 0.00% G: 0.07%
Aus  269 13.40% 84.40% 0.74% 1.49% NA
Indica I  595 7.10% 79.50% 7.23% 6.22% NA
Indica II  465 48.80% 43.70% 1.72% 5.81% NA
Indica III  913 27.80% 61.30% 0.99% 9.86% NA
Indica Intermediate  786 25.20% 65.60% 2.80% 6.36% NA
Temperate Japonica  767 97.70% 2.30% 0.00% 0.00% NA
Tropical Japonica  504 90.10% 9.50% 0.20% 0.00% G: 0.20%
Japonica Intermediate  241 85.10% 14.90% 0.00% 0.00% NA
VI/Aromatic  96 90.60% 9.40% 0.00% 0.00% NA
Intermediate  90 77.80% 21.10% 1.11% 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
vg0910245730 A -> G LOC_Os09g16740.1 downstream_gene_variant ; 514.0bp to feature; MODIFIER silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 N N N N
vg0910245730 A -> G LOC_Os09g16750.1 downstream_gene_variant ; 1169.0bp to feature; MODIFIER silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 N N N N
vg0910245730 A -> G LOC_Os09g16740-LOC_Os09g16750 intergenic_region ; MODIFIER silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 N N N N
vg0910245730 A -> DEL N N silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 N N N N
vg0910245730 A -> C LOC_Os09g16740.1 downstream_gene_variant ; 514.0bp to feature; MODIFIER silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 N N N N
vg0910245730 A -> C LOC_Os09g16750.1 downstream_gene_variant ; 1169.0bp to feature; MODIFIER silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 N N N N
vg0910245730 A -> C LOC_Os09g16740-LOC_Os09g16750 intergenic_region ; MODIFIER silent_mutation Average:78.888; most accessible tissue: Callus, score: 98.771 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)
vg0910245730 A C -0.17 -0.1 -0.1 -0.09 -0.15 -0.14
vg0910245730 A G -0.14 -0.1 -0.1 -0.07 -0.13 -0.13

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0910245730 NA 8.97E-09 mr1986 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
vg0910245730 NA 1.37E-19 mr1362_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
vg0910245730 4.56E-06 4.56E-06 mr1367_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
vg0910245730 NA 1.56E-08 mr1748_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
vg0910245730 NA 3.01E-06 mr1754_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
vg0910245730 NA 8.19E-16 mr1836_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