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Detailed information for vg1127006456:

Variant ID: vg1127006456 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 27006456
Reference Allele: TAlternative Allele: A,TATGCAGAAGCATCACGTTTTCA
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, others allele: 0.00, population size: 130. )

Flanking Sequence (100 bp) in Reference Genome:


TCCCTCAAATGCATGAACATGGAATCTTTCCCATGAAGTTAACTTAAAACTATACGTGTCTCCCAAAAGGCAGCCCCTCCCATGGAGATTTAATATATAC[T/A,TATGCAGAAGCATCACGTTTTCA]
TATAAGTAGTTCAAGCATGAACTAGCAGGAGTGCAAGACATTAATTAGTGGGTGCATTGTTGGCATCACCTCAAAGTGTCATTTAGCTTACCACTTTTTC

Reverse complement sequence

GAAAAAGTGGTAAGCTAAATGACACTTTGAGGTGATGCCAACAATGCACCCACTAATTAATGTCTTGCACTCCTGCTAGTTCATGCTTGAACTACTTATA[A/T,TGAAAACGTGATGCTTCTGCATA]
GTATATATTAAATCTCCATGGGAGGGGCTGCCTTTTGGGAGACACGTATAGTTTTAAGTTAACTTCATGGGAAAGATTCCATGTTCATGCATTTGAGGGA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.40% 3.50% 1.97% 2.20% NA
All Indica  2759 88.10% 5.50% 2.75% 3.59% NA
All Japonica  1512 99.20% 0.20% 0.46% 0.13% NA
Aus  269 95.90% 0.70% 2.97% 0.37% NA
Indica I  595 73.30% 22.40% 3.19% 1.18% NA
Indica II  465 97.80% 0.20% 0.86% 1.08% NA
Indica III  913 88.20% 0.10% 3.94% 7.78% NA
Indica Intermediate  786 93.50% 2.30% 2.16% 2.04% NA
Temperate Japonica  767 99.30% 0.30% 0.39% 0.00% NA
Tropical Japonica  504 99.40% 0.00% 0.20% 0.40% NA
Japonica Intermediate  241 98.30% 0.40% 1.24% 0.00% NA
VI/Aromatic  96 96.90% 1.00% 2.08% 0.00% NA
Intermediate  90 92.20% 5.60% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1127006456 T -> A LOC_Os11g44660.1 upstream_gene_variant ; 1073.0bp to feature; MODIFIER silent_mutation Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 N N N N
vg1127006456 T -> A LOC_Os11g44670.1 downstream_gene_variant ; 4775.0bp to feature; MODIFIER silent_mutation Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 N N N N
vg1127006456 T -> A LOC_Os11g44650-LOC_Os11g44660 intergenic_region ; MODIFIER silent_mutation Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 N N N N
vg1127006456 T -> DEL N N silent_mutation Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 N N N N
vg1127006456 T -> TATGCAGAAGCATCACGTTTTCA LOC_Os11g44660.1 upstream_gene_variant ; 1072.0bp to feature; MODIFIER N Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 N N N N
vg1127006456 T -> TATGCAGAAGCATCACGTTTTCA LOC_Os11g44670.1 downstream_gene_variant ; 4774.0bp to feature; MODIFIER N Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 N N N N
vg1127006456 T -> TATGCAGAAGCATCACGTTTTCA LOC_Os11g44650-LOC_Os11g44660 intergenic_region ; MODIFIER N Average:62.293; most accessible tissue: Zhenshan97 root, score: 95.096 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)
vg1127006456 T A 0.0 0.0 0.0 -0.01 -0.01 0.0
vg1127006456 T TATGC* 0.98 -0.04 -0.08 -0.02 0.02 -0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1127006456 NA 2.94E-06 mr1115_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
vg1127006456 NA 2.87E-06 mr1131_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
vg1127006456 NA 6.64E-06 mr1199_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
vg1127006456 NA 4.95E-06 mr1376_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
vg1127006456 NA 5.59E-06 mr1402_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
vg1127006456 NA 6.46E-06 mr1415_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
vg1127006456 NA 4.27E-06 mr1431_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
vg1127006456 NA 7.19E-06 mr1482_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
vg1127006456 6.10E-06 2.10E-06 mr1696_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
vg1127006456 NA 4.35E-06 mr1763_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