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Detailed information for vg0420116884:

Variant ID: vg0420116884 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 20116884
Reference Allele: GAlternative Allele: A,GTGCACCTCCAGTTCCCCCCTGC,GTGCAC
Primary Allele: ASecondary Allele: GTGCAC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGCCTCGCCGTTAGGTCTTTCTACTCCAGTCAGTTCAGTTCCATCTTCAGCAGCAGATCGCGACCGTCACGTCATTTCAACGCATCGTGATACCCATACA[G/A,GTGCACCTCCAGTTCCCCCCTGC,GTGCAC]
CTAGCCAGGACCCCGCGCGTTGCCGCGGGGTGCTTAAGCAAAACAAAATATTTAACATATGAACAACCATAAAGATTTCTGATGGGAAAATTTTCTATAC

Reverse complement sequence

GTATAGAAAATTTTCCCATCAGAAATCTTTATGGTTGTTCATATGTTAAATATTTTGTTTTGCTTAAGCACCCCGCGGCAACGCGCGGGGTCCTGGCTAG[C/T,GCAGGGGGGAACTGGAGGTGCAC,GTGCAC]
TGTATGGGTATCACGATGCGTTGAAATGACGTGACGGTCGCGATCTGCTGCTGAAGATGGAACTGAACTGACTGGAGTAGAAAGACCTAACGGCGAGGCA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of GTGCAC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 36.80% 7.50% 27.00% 15.49% G: 7.13%; GTGCACCTCCAGTTCCCCCCTGC: 6.05%
All Indica  2759 13.80% 11.40% 38.49% 26.13% GTGCACCTCCAGTTCCCCCCTGC: 9.46%; G: 0.72%
All Japonica  1512 73.30% 0.10% 6.22% 0.07% G: 20.30%; GTGCACCTCCAGTTCCCCCCTGC: 0.07%
Aus  269 43.50% 11.50% 35.32% 2.60% GTGCACCTCCAGTTCCCCCCTGC: 7.06%
Indica I  595 6.40% 5.40% 53.78% 28.07% GTGCACCTCCAGTTCCCCCCTGC: 6.22%; G: 0.17%
Indica II  465 15.10% 12.50% 33.12% 29.46% GTGCACCTCCAGTTCCCCCCTGC: 8.60%; G: 1.29%
Indica III  913 17.20% 14.90% 27.93% 26.94% GTGCACCTCCAGTTCCCCCCTGC: 12.38%; G: 0.66%
Indica Intermediate  786 14.60% 11.30% 42.37% 21.76% GTGCACCTCCAGTTCCCCCCTGC: 9.03%; G: 0.89%
Temperate Japonica  767 53.70% 0.00% 8.74% 0.00% G: 37.55%
Tropical Japonica  504 93.80% 0.20% 3.57% 0.20% G: 1.98%; GTGCACCTCCAGTTCCCCCCTGC: 0.20%
Japonica Intermediate  241 92.50% 0.00% 3.73% 0.00% G: 3.73%
VI/Aromatic  96 84.40% 5.20% 8.33% 0.00% GTGCACCTCCAGTTCCCCCCTGC: 2.08%
Intermediate  90 58.90% 4.40% 18.89% 3.33% G: 11.11%; GTGCACCTCCAGTTCCCCCCTGC: 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
vg0420116884 G -> GTGCACCTCCAGTTCCCCCCTGC LOC_Os04g33250.1 downstream_gene_variant ; 1428.0bp to feature; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> GTGCACCTCCAGTTCCCCCCTGC LOC_Os04g33260.1 downstream_gene_variant ; 384.0bp to feature; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> GTGCACCTCCAGTTCCCCCCTGC LOC_Os04g33250-LOC_Os04g33260 intergenic_region ; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> DEL N N silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> A LOC_Os04g33250.1 downstream_gene_variant ; 1427.0bp to feature; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> A LOC_Os04g33260.1 downstream_gene_variant ; 385.0bp to feature; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> A LOC_Os04g33250-LOC_Os04g33260 intergenic_region ; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> GTGCAC LOC_Os04g33250.1 downstream_gene_variant ; 1428.0bp to feature; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> GTGCAC LOC_Os04g33260.1 downstream_gene_variant ; 384.0bp to feature; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 N N N N
vg0420116884 G -> GTGCAC LOC_Os04g33250-LOC_Os04g33260 intergenic_region ; MODIFIER silent_mutation Average:79.995; most accessible tissue: Minghui63 panicle, score: 96.874 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)
vg0420116884 G A -0.01 -0.02 -0.03 -0.06 -0.02 -0.02
vg0420116884 G GTGCA* 0.09 0.11 0.15 0.0 0.09 0.21

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0420116884 NA 4.12E-10 mr1026 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
vg0420116884 NA 2.94E-08 mr1161 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
vg0420116884 NA 5.21E-07 mr1164 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
vg0420116884 NA 1.24E-06 mr1183 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
vg0420116884 NA 1.11E-06 mr1330 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
vg0420116884 NA 3.87E-07 mr1503 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
vg0420116884 NA 7.27E-07 mr1521 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
vg0420116884 NA 2.78E-07 mr1617 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
vg0420116884 NA 6.58E-08 mr1627 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
vg0420116884 NA 9.19E-11 mr1712 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
vg0420116884 NA 9.91E-07 mr1748 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
vg0420116884 5.41E-06 5.41E-06 mr1779 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
vg0420116884 NA 6.80E-07 mr1880 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
vg0420116884 NA 8.63E-10 mr1977 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
vg0420116884 NA 2.98E-06 mr1977 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