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Detailed information for vg0405739020:

Variant ID: vg0405739020 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 5739020
Reference Allele: AAlternative Allele: ATGGGTCG,G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCTTTTTCATGGTTTCTATTTTTTTTCTCTTTTCTTCTTCTTCTCTTTCTTATCTCTTTCTCTCACCCATTTGTTTAGTCCGGTCATGGCGTGGCAGCTC[A/ATGGGTCG,G]
CTGCCATGGGGCAGATCCCAGCGGCATCGGTGCGACTTCAGCAAAAGCAAAACGCAGCTCTTTCTCTCTCTGTTTTTATAAAAATAATAAAATAGTGTGT

Reverse complement sequence

ACACACTATTTTATTATTTTTATAAAAACAGAGAGAGAAAGAGCTGCGTTTTGCTTTTGCTGAAGTCGCACCGATGCCGCTGGGATCTGCCCCATGGCAG[T/CGACCCAT,C]
GAGCTGCCACGCCATGACCGGACTAAACAAATGGGTGAGAGAAAGAGATAAGAAAGAGAAGAAGAAGAAAAGAGAAAAAAAATAGAAACCATGAAAAAGG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 77.50% 5.20% 0.61% 12.17% ATGGGTCG: 4.59%
All Indica  2759 88.70% 4.30% 0.40% 6.56% ATGGGTCG: 0.04%
All Japonica  1512 66.10% 6.30% 0.46% 13.03% ATGGGTCG: 14.09%
Aus  269 35.70% 7.40% 3.35% 53.53% NA
Indica I  595 90.30% 0.50% 0.67% 8.57% NA
Indica II  465 90.80% 6.70% 0.00% 2.58% NA
Indica III  913 85.30% 7.10% 0.44% 7.12% NA
Indica Intermediate  786 90.20% 2.50% 0.38% 6.74% ATGGGTCG: 0.13%
Temperate Japonica  767 67.00% 7.60% 0.39% 2.09% ATGGGTCG: 22.95%
Tropical Japonica  504 57.30% 5.20% 0.79% 32.74% ATGGGTCG: 3.97%
Japonica Intermediate  241 81.70% 4.60% 0.00% 6.64% ATGGGTCG: 7.05%
VI/Aromatic  96 50.00% 3.10% 2.08% 44.79% NA
Intermediate  90 77.80% 7.80% 0.00% 11.11% ATGGGTCG: 3.33%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0405739020 A -> DEL N N silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> ATGGGTCG LOC_Os04g10569.1 upstream_gene_variant ; 419.0bp to feature; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> ATGGGTCG LOC_Os04g10590.1 upstream_gene_variant ; 3623.0bp to feature; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> ATGGGTCG LOC_Os04g10550.1 downstream_gene_variant ; 1958.0bp to feature; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> ATGGGTCG LOC_Os04g10550-LOC_Os04g10569 intergenic_region ; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> G LOC_Os04g10569.1 upstream_gene_variant ; 420.0bp to feature; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> G LOC_Os04g10590.1 upstream_gene_variant ; 3624.0bp to feature; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> G LOC_Os04g10550.1 downstream_gene_variant ; 1957.0bp to feature; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 N N N N
vg0405739020 A -> G LOC_Os04g10550-LOC_Os04g10569 intergenic_region ; MODIFIER silent_mutation Average:57.17; most accessible tissue: Callus, score: 97.607 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)
vg0405739020 A ATGGG* 0.3 0.38 0.45 0.14 0.32 0.26
vg0405739020 A G 0.01 0.06 0.05 -0.03 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0405739020 2.24E-06 NA mr1035 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
vg0405739020 8.14E-08 4.21E-11 mr1035 Jap_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
vg0405739020 NA 3.38E-09 mr1062 Jap_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
vg0405739020 2.57E-06 2.57E-06 mr1525 Jap_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
vg0405739020 2.18E-07 NA mr1626 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
vg0405739020 3.24E-09 2.75E-12 mr1626 Jap_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
vg0405739020 8.38E-08 8.38E-08 mr1631 Jap_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
vg0405739020 1.45E-06 1.89E-09 mr1035_2 Jap_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
vg0405739020 1.04E-08 NA mr1062_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
vg0405739020 2.00E-09 1.37E-13 mr1062_2 Jap_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
vg0405739020 1.75E-07 1.75E-07 mr1525_2 Jap_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
vg0405739020 9.61E-07 NA mr1631_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
vg0405739020 7.71E-08 3.14E-12 mr1631_2 Jap_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