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Detailed information for vg0629626076:

Variant ID: vg0629626076 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 29626076
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.51, T: 0.49, others allele: 0.00, population size: 82. )

Flanking Sequence (100 bp) in Reference Genome:


TTATTATTATTATTATTATTATTATTATTATTATTATTGAATGATAAAATATGAATAGTACTTTATGTACGACTTATTTTTTTAAATTTTTTAAATAAAA[T/C]
AGACAATCAAATGTTAAGCATAGTAATCTATAACTGAATTTAAAATAAAACGGGGAGTACGTATTATTGGGGAGAGAGATAGAGAGAGACAGGGGGAGTG

Reverse complement sequence

CACTCCCCCTGTCTCTCTCTATCTCTCTCCCCAATAATACGTACTCCCCGTTTTATTTTAAATTCAGTTATAGATTACTATGCTTAACATTTGATTGTCT[A/G]
TTTTATTTAAAAAATTTAAAAAAATAAGTCGTACATAAAGTACTATTCATATTTTATCATTCAATAATAATAATAATAATAATAATAATAATAATAATAA

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 33.20% 30.10% 7.45% 29.26% NA
All Indica  2759 40.60% 5.50% 11.34% 42.59% NA
All Japonica  1512 14.60% 81.30% 0.99% 3.11% NA
Aus  269 42.40% 3.70% 4.46% 49.44% NA
Indica I  595 39.50% 17.00% 13.61% 29.92% NA
Indica II  465 33.10% 1.50% 14.41% 50.97% NA
Indica III  913 45.70% 0.50% 5.59% 48.19% NA
Indica Intermediate  786 39.90% 4.80% 14.50% 40.71% NA
Temperate Japonica  767 2.20% 95.70% 0.39% 1.69% NA
Tropical Japonica  504 25.20% 68.10% 2.38% 4.37% NA
Japonica Intermediate  241 31.50% 63.50% 0.00% 4.98% NA
VI/Aromatic  96 90.60% 3.10% 1.04% 5.21% NA
Intermediate  90 32.20% 30.00% 12.22% 25.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0629626076 T -> C LOC_Os06g48930.1 upstream_gene_variant ; 3603.0bp to feature; MODIFIER silent_mutation Average:89.948; most accessible tissue: Zhenshan97 young leaf, score: 94.037 N N N N
vg0629626076 T -> C LOC_Os06g48940.1 upstream_gene_variant ; 140.0bp to feature; MODIFIER silent_mutation Average:89.948; most accessible tissue: Zhenshan97 young leaf, score: 94.037 N N N N
vg0629626076 T -> C LOC_Os06g48930-LOC_Os06g48940 intergenic_region ; MODIFIER silent_mutation Average:89.948; most accessible tissue: Zhenshan97 young leaf, score: 94.037 N N N N
vg0629626076 T -> DEL N N silent_mutation Average:89.948; most accessible tissue: Zhenshan97 young leaf, score: 94.037 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)
vg0629626076 T C -0.03 -0.03 -0.03 -0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0629626076 NA 3.92E-15 mr1276 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
vg0629626076 NA 8.14E-39 mr1480 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
vg0629626076 NA 2.76E-07 mr1659 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
vg0629626076 NA 5.75E-50 mr1692 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
vg0629626076 NA 1.73E-18 mr1968 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
vg0629626076 NA 4.99E-06 mr1153_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
vg0629626076 NA 1.29E-18 mr1168_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
vg0629626076 NA 2.96E-10 mr1232_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
vg0629626076 NA 6.96E-07 mr1275_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
vg0629626076 NA 1.98E-17 mr1557_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
vg0629626076 NA 3.94E-11 mr1714_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
vg0629626076 NA 4.70E-10 mr1806_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
vg0629626076 NA 5.05E-23 mr1968_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