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Detailed information for vg0500806382:

Variant ID: vg0500806382 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 806382
Reference Allele: TAlternative Allele: G,TAG,TAGAG,TAGAGAGAGAG,TATAGAG,TAGAGAG
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCAGGTCAGGTCATCTTATCTTTGCCGGTACGGTGTTGCCACATGCGCTTGAGATCAGATAACCATTTTATGCACTTACAACAGTATATATATATATATA[T/G,TAG,TAGAG,TAGAGAGAGAG,TATAGAG,TAGAGAG]
AGAGAGAGAGGGGTCTAGATCATTTCTAGGCAGAAATCTATAGGAACATCAGCGCTTATCATACCTTCACATCCTATATTAATTAATTTGATCGGACCGA

Reverse complement sequence

TCGGTCCGATCAAATTAATTAATATAGGATGTGAAGGTATGATAAGCGCTGATGTTCCTATAGATTTCTGCCTAGAAATGATCTAGACCCCTCTCTCTCT[A/C,CTA,CTCTA,CTCTCTCTCTA,CTCTATA,CTCTCTA]
TATATATATATATATACTGTTGTAAGTGCATAAAATGGTTATCTGATCTCAAGCGCATGTGGCAACACCGTACCGGCAAAGATAAGATGACCTGACCTGA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 66.00% 13.40% 8.32% 1.65% TATAGAG: 3.89%; TAGAG: 3.49%; TAG: 1.40%; TAGAGAG: 0.93%; TAGAGAGAGAG: 0.85%
All Indica  2759 92.20% 1.00% 2.86% 0.00% TAG: 1.88%; TAGAGAGAGAG: 0.94%; TAGAG: 0.76%; TAGAGAG: 0.25%; TATAGAG: 0.11%
All Japonica  1512 14.70% 38.20% 18.06% 5.16% TATAGAG: 11.51%; TAGAG: 9.26%; TAGAGAG: 2.38%; TAG: 0.53%; TAGAGAGAGAG: 0.13%
Aus  269 81.80% 3.70% 9.67% 0.00% TAGAGAGAGAG: 3.72%; TAG: 1.12%
Indica I  595 95.50% 0.30% 1.18% 0.00% TAG: 2.69%; TAGAGAG: 0.17%; TAGAGAGAGAG: 0.17%
Indica II  465 90.80% 2.40% 3.66% 0.00% TAG: 1.72%; TAGAG: 1.29%; TAGAGAGAGAG: 0.22%
Indica III  913 93.20% 0.50% 1.20% 0.00% TAGAGAGAGAG: 2.30%; TAG: 1.10%; TAGAG: 0.99%; TAGAGAG: 0.55%; TATAGAG: 0.11%
Indica Intermediate  786 89.30% 1.30% 5.60% 0.00% TAG: 2.29%; TAGAG: 0.76%; TAGAGAGAGAG: 0.38%; TATAGAG: 0.25%; TAGAGAG: 0.13%
Temperate Japonica  767 15.10% 60.60% 16.56% 0.39% TAGAG: 3.65%; TATAGAG: 2.22%; TAG: 0.65%; TAGAGAG: 0.52%; TAGAGAGAGAG: 0.26%
Tropical Japonica  504 14.30% 14.10% 16.67% 13.89% TATAGAG: 21.23%; TAGAG: 15.48%; TAGAGAG: 3.97%; TAG: 0.40%
Japonica Intermediate  241 14.50% 17.40% 25.73% 2.07% TATAGAG: 20.75%; TAGAG: 14.11%; TAGAGAG: 4.98%; TAG: 0.41%
VI/Aromatic  96 85.40% 4.20% 6.25% 0.00% TAGAGAGAGAG: 2.08%; TAGAGAG: 1.04%; TATAGAG: 1.04%
Intermediate  90 58.90% 16.70% 10.00% 0.00% TATAGAG: 6.67%; TAGAG: 4.44%; TAG: 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
vg0500806382 T -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAG LOC_Os05g02420.1 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAG LOC_Os05g02430.1 downstream_gene_variant ; 3625.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAG LOC_Os05g02420.2 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAG LOC_Os05g02420-LOC_Os05g02430 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAGAGAG LOC_Os05g02420.1 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAGAGAG LOC_Os05g02430.1 downstream_gene_variant ; 3625.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAGAGAG LOC_Os05g02420.2 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAGAGAG LOC_Os05g02420-LOC_Os05g02430 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> G LOC_Os05g02420.1 downstream_gene_variant ; 2918.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> G LOC_Os05g02430.1 downstream_gene_variant ; 3626.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> G LOC_Os05g02420.2 downstream_gene_variant ; 2918.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> G LOC_Os05g02420-LOC_Os05g02430 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAG LOC_Os05g02420.1 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAG LOC_Os05g02430.1 downstream_gene_variant ; 3625.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAG LOC_Os05g02420.2 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAGAG LOC_Os05g02420-LOC_Os05g02430 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TATAGAG LOC_Os05g02420.1 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TATAGAG LOC_Os05g02430.1 downstream_gene_variant ; 3625.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TATAGAG LOC_Os05g02420.2 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TATAGAG LOC_Os05g02420-LOC_Os05g02430 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAG LOC_Os05g02420.1 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAG LOC_Os05g02430.1 downstream_gene_variant ; 3625.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAG LOC_Os05g02420.2 downstream_gene_variant ; 2919.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500806382 T -> TAGAG LOC_Os05g02420-LOC_Os05g02430 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0500806382 T G 0.02 0.03 0.03 0.02 0.06 0.05
vg0500806382 T TAG 0.15 0.09 0.07 0.06 0.18 0.14
vg0500806382 T TAGAG -0.36 -0.15 -0.06 0.07 0.06 0.11
vg0500806382 T TAGAG* -0.01 -0.18 -0.09 0.1 0.19 0.29
vg0500806382 T TATAG* -0.26 -0.07 0.02 0.15 0.21 0.35

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0500806382 NA 3.47E-17 mr1913 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
vg0500806382 NA 5.22E-06 mr1913 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
vg0500806382 NA 3.19E-07 mr1020_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
vg0500806382 NA 3.54E-26 mr1024_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
vg0500806382 NA 1.01E-11 mr1097_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
vg0500806382 NA 7.65E-07 mr1100_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
vg0500806382 NA 2.39E-33 mr1102_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
vg0500806382 NA 7.24E-13 mr1191_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
vg0500806382 NA 6.57E-39 mr1223_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
vg0500806382 NA 2.63E-20 mr1298_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
vg0500806382 NA 2.68E-10 mr1349_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
vg0500806382 2.96E-06 2.96E-06 mr1389_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
vg0500806382 NA 8.00E-06 mr1402_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
vg0500806382 NA 2.08E-14 mr1575_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
vg0500806382 NA 5.30E-07 mr1613_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
vg0500806382 NA 5.21E-18 mr1712_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
vg0500806382 NA 7.92E-14 mr1717_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
vg0500806382 NA 1.03E-19 mr1731_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
vg0500806382 1.20E-06 1.26E-09 mr1795_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
vg0500806382 NA 2.73E-07 mr1913_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
vg0500806382 NA 4.48E-21 mr1922_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
vg0500806382 NA 4.09E-09 mr1940_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
vg0500806382 NA 4.00E-09 mr1946_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
vg0500806382 NA 4.00E-09 mr1948_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
vg0500806382 NA 4.77E-06 mr1962_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
vg0500806382 NA 5.71E-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