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Detailed information for vg0305905056:

Variant ID: vg0305905056 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 5905056
Reference Allele: TAlternative Allele: A,TGA,TGAGAGA
Primary Allele: TSecondary Allele: TGA

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, A: 0.01, others allele: 0.00, population size: 222. )

Flanking Sequence (100 bp) in Reference Genome:


TGCACACCTGCACTGCAGAGAATGTTCCAAGTGTACTCCTGCTGATGCTGATGCTGCAGTTGCAGTCATGTGTCCCAAGTCCCAAAGTCATGTGTGTGTG[T/A,TGA,TGAGAGA]
GTGAGAGAGAGAAAAGATTTGATGACGAGATGGAAAGCGTTTTGTACTTTAGTACTTCTAGGAGAAGTACAGCAATGCATGCAGTGCAGTGCAGTGCACA

Reverse complement sequence

TGTGCACTGCACTGCACTGCATGCATTGCTGTACTTCTCCTAGAAGTACTAAAGTACAAAACGCTTTCCATCTCGTCATCAAATCTTTTCTCTCTCTCAC[A/T,TCA,TCTCTCA]
CACACACACATGACTTTGGGACTTGGGACACATGACTGCAACTGCAGCATCAGCATCAGCAGGAGTACACTTGGAACATTCTCTGCAGTGCAGGTGTGCA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TGA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 59.00% 28.50% 0.28% 0.61% A: 11.57%; TGAGAGA: 0.06%
All Indica  2759 40.30% 46.50% 0.43% 1.01% A: 11.74%
All Japonica  1512 99.00% 0.50% 0.07% 0.00% A: 0.33%; TGAGAGA: 0.07%
Aus  269 17.10% 11.50% 0.00% 0.00% A: 71.38%
Indica I  595 16.10% 57.30% 1.18% 0.84% A: 24.54%
Indica II  465 36.30% 58.10% 0.00% 1.29% A: 4.30%
Indica III  913 57.30% 37.20% 0.11% 0.88% A: 4.49%
Indica Intermediate  786 41.20% 42.20% 0.51% 1.15% A: 14.89%
Temperate Japonica  767 98.30% 0.90% 0.13% 0.00% A: 0.65%
Tropical Japonica  504 99.80% 0.00% 0.00% 0.00% TGAGAGA: 0.20%
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 71.90% 6.20% 0.00% 0.00% A: 21.88%
Intermediate  90 70.00% 21.10% 0.00% 1.11% A: 5.56%; TGAGAGA: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0305905056 T -> A LOC_Os03g11460.1 upstream_gene_variant ; 2647.0bp to feature; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> A LOC_Os03g11450.1 downstream_gene_variant ; 2595.0bp to feature; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> A LOC_Os03g11450-LOC_Os03g11460 intergenic_region ; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> DEL N N silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> TGAGAGA LOC_Os03g11460.1 upstream_gene_variant ; 2646.0bp to feature; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> TGAGAGA LOC_Os03g11450.1 downstream_gene_variant ; 2596.0bp to feature; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> TGAGAGA LOC_Os03g11450-LOC_Os03g11460 intergenic_region ; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> TGA LOC_Os03g11460.1 upstream_gene_variant ; 2646.0bp to feature; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> TGA LOC_Os03g11450.1 downstream_gene_variant ; 2596.0bp to feature; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 N N N N
vg0305905056 T -> TGA LOC_Os03g11450-LOC_Os03g11460 intergenic_region ; MODIFIER silent_mutation Average:86.92; most accessible tissue: Callus, score: 99.885 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)
vg0305905056 T A -0.04 -0.01 0.0 0.02 0.0 -0.01
vg0305905056 T TGA 0.0 0.09 0.06 0.13 0.16 0.16
vg0305905056 T TGAGA* -0.07 0.12 0.12 0.12 0.23 0.32

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0305905056 NA 4.03E-08 mr1038 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
vg0305905056 NA 9.32E-06 mr1188 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
vg0305905056 NA 5.20E-06 mr1207 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
vg0305905056 NA 1.61E-08 mr1389 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
vg0305905056 NA 4.47E-07 mr1453 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
vg0305905056 NA 7.77E-06 mr1532 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
vg0305905056 NA 2.77E-08 mr1633 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
vg0305905056 NA 8.76E-07 mr1652 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
vg0305905056 NA 7.02E-12 mr1706 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
vg0305905056 NA 1.73E-06 mr1706 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
vg0305905056 NA 1.07E-10 mr1921 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
vg0305905056 NA 1.74E-06 mr1038_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
vg0305905056 NA 2.98E-06 mr1060_2 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
vg0305905056 1.29E-07 1.34E-08 mr1172_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
vg0305905056 NA 1.68E-07 mr1359_2 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
vg0305905056 NA 1.87E-06 mr1520_2 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
vg0305905056 NA 8.87E-07 mr1968_2 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