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Detailed information for vg0919035988:

Variant ID: vg0919035988 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 19035988
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.60, C: 0.40, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


TTGTTAAATCATGGAGCAATTAGGCTTAAAAGATTCGTCTCGCAAATTAGTCGCAATCTGTGTAATTAGTTACGAGTATTTTTTTTGTCTATATTTAATA[T/C]
ATTCATATGTGTTAAAACGTTTGATGTGACATAGGGTGGGATATAAAATTATAAACAGGCCTGTAGCCAATTAATCCGTCTCGATCGAGTTTCCGGCCGG

Reverse complement sequence

CCGGCCGGAAACTCGATCGAGACGGATTAATTGGCTACAGGCCTGTTTATAATTTTATATCCCACCCTATGTCACATCAAACGTTTTAACACATATGAAT[A/G]
TATTAAATATAGACAAAAAAAATACTCGTAACTAATTACACAGATTGCGACTAATTTGCGAGACGAATCTTTTAAGCCTAATTGCTCCATGATTTAACAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 42.90% 29.70% 10.77% 16.63% NA
All Indica  2759 72.30% 12.50% 7.54% 7.68% NA
All Japonica  1512 0.30% 52.10% 17.86% 29.76% NA
Aus  269 1.90% 78.40% 3.35% 16.36% NA
Indica I  595 32.10% 25.20% 27.90% 14.79% NA
Indica II  465 83.00% 11.60% 0.86% 4.52% NA
Indica III  913 92.90% 3.00% 0.77% 3.40% NA
Indica Intermediate  786 72.40% 14.50% 3.94% 9.16% NA
Temperate Japonica  767 0.00% 69.00% 19.43% 11.60% NA
Tropical Japonica  504 0.00% 24.60% 15.28% 60.12% NA
Japonica Intermediate  241 2.10% 55.60% 18.26% 24.07% NA
VI/Aromatic  96 0.00% 17.70% 15.62% 66.67% NA
Intermediate  90 25.60% 48.90% 7.78% 17.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0919035988 T -> DEL N N silent_mutation Average:92.138; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0919035988 T -> C LOC_Os09g31518.1 upstream_gene_variant ; 4657.0bp to feature; MODIFIER silent_mutation Average:92.138; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0919035988 T -> C LOC_Os09g31522.1 upstream_gene_variant ; 1896.0bp to feature; MODIFIER silent_mutation Average:92.138; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0919035988 T -> C LOC_Os09g31930.1 downstream_gene_variant ; 3758.0bp to feature; MODIFIER silent_mutation Average:92.138; most accessible tissue: Minghui63 young leaf, score: 98.029 N N N N
vg0919035988 T -> C LOC_Os09g31522-LOC_Os09g31930 intergenic_region ; MODIFIER silent_mutation Average:92.138; most accessible tissue: Minghui63 young leaf, score: 98.029 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)
vg0919035988 T C -0.06 -0.06 -0.08 -0.03 -0.02 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0919035988 3.03E-06 3.03E-06 mr1160 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
vg0919035988 NA 8.24E-08 mr1174 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
vg0919035988 NA 1.04E-06 mr1527 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
vg0919035988 NA 3.74E-06 mr1532 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
vg0919035988 NA 4.41E-08 mr1707 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
vg0919035988 NA 1.33E-08 mr1728 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
vg0919035988 NA 1.60E-06 mr1992 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
vg0919035988 2.50E-06 2.50E-06 mr1992 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
vg0919035988 NA 7.89E-09 mr1860_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