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Detailed information for vg1114153307:

Variant ID: vg1114153307 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 14153307
Reference Allele: AAlternative Allele: C,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.81, A: 0.18, others allele: 0.00, population size: 72. )

Flanking Sequence (100 bp) in Reference Genome:


ACCCTACCACCAGGGAAACAAAATTCTCCCTCCAAGACATATTTCAATGTCTGGTGGCGCGGAGGAATACAAATTTCACATCTTCATTTAGGGCCTGTTC[A/C,T]
CTTTGGTGCCATTTTCAACCTTACCAAATTTTGGTAAAGTTGCCAAAAAAGTGGCTACATTTAGTTTGCTGCCAAATTTTGGTAACTATATAACAAATCC

Reverse complement sequence

GGATTTGTTATATAGTTACCAAAATTTGGCAGCAAACTAAATGTAGCCACTTTTTTGGCAACTTTACCAAAATTTGGTAAGGTTGAAAATGGCACCAAAG[T/G,A]
GAACAGGCCCTAAATGAAGATGTGAAATTTGTATTCCTCCGCGCCACCAGACATTGAAATATGTCTTGGAGGGAGAATTTTGTTTCCCTGGTGGTAGGGT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 63.40% 34.70% 0.17% 0.00% T: 1.69%
All Indica  2759 94.70% 2.20% 0.18% 0.00% T: 2.90%
All Japonica  1512 3.30% 96.60% 0.13% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 97.10% 2.50% 0.34% 0.00% NA
Indica II  465 98.70% 0.60% 0.00% 0.00% T: 0.65%
Indica III  913 90.90% 0.30% 0.33% 0.00% T: 8.43%
Indica Intermediate  786 95.00% 5.00% 0.00% 0.00% NA
Temperate Japonica  767 3.70% 96.20% 0.13% 0.00% NA
Tropical Japonica  504 3.20% 96.60% 0.20% 0.00% NA
Japonica Intermediate  241 2.50% 97.50% 0.00% 0.00% NA
VI/Aromatic  96 13.50% 86.50% 0.00% 0.00% NA
Intermediate  90 58.90% 40.00% 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
vg1114153307 A -> T LOC_Os11g24824.1 upstream_gene_variant ; 191.0bp to feature; MODIFIER silent_mutation Average:78.751; most accessible tissue: Callus, score: 90.526 N N N N
vg1114153307 A -> T LOC_Os11g24810-LOC_Os11g24824 intergenic_region ; MODIFIER silent_mutation Average:78.751; most accessible tissue: Callus, score: 90.526 N N N N
vg1114153307 A -> C LOC_Os11g24824.1 upstream_gene_variant ; 191.0bp to feature; MODIFIER silent_mutation Average:78.751; most accessible tissue: Callus, score: 90.526 N N N N
vg1114153307 A -> C LOC_Os11g24810-LOC_Os11g24824 intergenic_region ; MODIFIER silent_mutation Average:78.751; most accessible tissue: Callus, score: 90.526 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)
vg1114153307 A C -0.07 -0.04 -0.05 -0.08 -0.07 -0.07
vg1114153307 A T -0.02 -0.02 -0.02 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1114153307 9.39E-07 NA mr1142 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
vg1114153307 2.07E-06 NA mr1390 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
vg1114153307 7.53E-08 NA mr1489 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
vg1114153307 5.19E-06 NA mr1490 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
vg1114153307 3.59E-09 NA mr1491 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
vg1114153307 1.04E-06 1.04E-06 mr1778 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