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Detailed information for vg0826837403:

Variant ID: vg0826837403 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 26837403
Reference Allele: TACAGAGTAGTAAAlternative Allele: TTTTTGACAGAGTAGTAA,GACAGAGTAGTAA,TTTTTTGACAGAGTAGTAA,TGACAGAGTAGTAA,T,TTTTTTTGACAGAGTAGTAA
Primary Allele: GACAGAGTAGTAASecondary Allele: TACAGAGTAGTAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGGAGGTACCGATACCTTGAGATACTTTTTGCTGGATCGGAGCAAATCTCTCTTTTTCCAAACACCCGTCCTATTCATGTTAGGATTGGCTTTTTTTTT[TACAGAGTAGTAA/TTTTTGACAGAGTAGTAA,GACAGAGTAGTAA,TTTTTTGACAGAGTAGTAA,TGACAGAGTAGTAA,T,TTTTTTTGACAGAGTAGTAA]
TATTTATGATAAGAGAGAAGTACATGATACATCGTCTAGTACTGGTTGGATTATGCAATAACAAGCTTAATTAGATATGAATATATGATCACCCTGATGT

Reverse complement sequence

ACATCAGGGTGATCATATATTCATATCTAATTAAGCTTGTTATTGCATAATCCAACCAGTACTAGACGATGTATCATGTACTTCTCTCTTATCATAAATA[TTACTACTCTGTA/TTACTACTCTGTCAAAAA,TTACTACTCTGTC,TTACTACTCTGTCAAAAAA,TTACTACTCTGTCA,A,TTACTACTCTGTCAAAAAAA]
AAAAAAAAAGCCAATCCTAACATGAATAGGACGGGTGTTTGGAAAAAGAGAGATTTGCTCCGATCCAGCAAAAAGTATCTCAAGGTATCGGTACCTCCCA

Allele Frequencies:

Populations Population SizeFrequency of GACAGAGTAGTAA(primary allele) Frequency of TACAGAGTAGTAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 36.30% 26.50% 5.33% 1.14% TGACAGAGTAGTAA: 17.71%; TTTTTTGACAGAGTAGTAA: 12.17%; TTTTTGACAGAGTAGTAA: 0.40%; T: 0.23%; TTTTTTTGACAGAGTAGTAA: 0.19%
All Indica  2759 46.90% 1.30% 8.63% 1.85% TTTTTTGACAGAGTAGTAA: 19.97%; TGACAGAGTAGTAA: 19.93%; TTTTTGACAGAGTAGTAA: 0.69%; T: 0.40%; TTTTTTTGACAGAGTAGTAA: 0.33%
All Japonica  1512 24.10% 73.60% 0.40% 0.13% TGACAGAGTAGTAA: 0.93%; TTTTTTGACAGAGTAGTAA: 0.86%
Aus  269 9.30% 1.10% 0.74% 0.00% TGACAGAGTAGTAA: 88.85%
Indica I  595 22.70% 1.00% 18.82% 3.36% TTTTTTGACAGAGTAGTAA: 33.28%; TGACAGAGTAGTAA: 18.32%; TTTTTGACAGAGTAGTAA: 1.85%; TTTTTTTGACAGAGTAGTAA: 0.50%; T: 0.17%
Indica II  465 46.00% 1.90% 6.45% 1.72% TTTTTTGACAGAGTAGTAA: 31.61%; TGACAGAGTAGTAA: 10.97%; TTTTTTTGACAGAGTAGTAA: 0.65%; TTTTTGACAGAGTAGTAA: 0.43%; T: 0.22%
Indica III  913 63.40% 0.50% 3.72% 0.44% TGACAGAGTAGTAA: 24.97%; TTTTTTGACAGAGTAGTAA: 6.24%; TTTTTGACAGAGTAGTAA: 0.44%; T: 0.22%
Indica Intermediate  786 46.70% 1.90% 7.89% 2.42% TGACAGAGTAGTAA: 20.61%; TTTTTTGACAGAGTAGTAA: 18.96%; T: 0.89%; TTTTTTTGACAGAGTAGTAA: 0.38%; TTTTTGACAGAGTAGTAA: 0.25%
Temperate Japonica  767 6.40% 91.40% 0.39% 0.13% TTTTTTGACAGAGTAGTAA: 1.30%; TGACAGAGTAGTAA: 0.39%
Tropical Japonica  504 44.40% 54.00% 0.40% 0.00% TGACAGAGTAGTAA: 1.19%
Japonica Intermediate  241 37.80% 58.10% 0.41% 0.41% TGACAGAGTAGTAA: 2.07%; TTTTTTGACAGAGTAGTAA: 1.24%
VI/Aromatic  96 1.00% 78.10% 0.00% 0.00% TGACAGAGTAGTAA: 20.83%
Intermediate  90 35.60% 28.90% 6.67% 1.11% TGACAGAGTAGTAA: 15.56%; TTTTTTGACAGAGTAGTAA: 12.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0826837403 TACAGAGTAGTAA -> TGACAGAGTAGTAA LOC_Os08g42470.1 downstream_gene_variant ; 3660.0bp to feature; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TGACAGAGTAGTAA LOC_Os08g42460-LOC_Os08g42470 intergenic_region ; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> DEL N N silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TTTTTTGACAGAGTAGTAA LOC_Os08g42470.1 downstream_gene_variant ; 3660.0bp to feature; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TTTTTTGACAGAGTAGTAA LOC_Os08g42460-LOC_Os08g42470 intergenic_region ; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> T LOC_Os08g42470.1 downstream_gene_variant ; 3660.0bp to feature; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> T LOC_Os08g42460-LOC_Os08g42470 intergenic_region ; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TTTTTTTGACAGAGTAGTAA LOC_Os08g42470.1 downstream_gene_variant ; 3660.0bp to feature; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TTTTTTTGACAGAGTAGTAA LOC_Os08g42460-LOC_Os08g42470 intergenic_region ; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TTTTTGACAGAGTAGTAA LOC_Os08g42470.1 downstream_gene_variant ; 3660.0bp to feature; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> TTTTTGACAGAGTAGTAA LOC_Os08g42460-LOC_Os08g42470 intergenic_region ; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> GACAGAGTAGTAA LOC_Os08g42470.1 downstream_gene_variant ; 3661.0bp to feature; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 N N N N
vg0826837403 TACAGAGTAGTAA -> GACAGAGTAGTAA LOC_Os08g42460-LOC_Os08g42470 intergenic_region ; MODIFIER silent_mutation Average:61.48; most accessible tissue: Zhenshan97 panicle, score: 83.904 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)
vg0826837403 TACAG* GACAG* 0.0 0.0 0.0 0.01 0.0 -0.02
vg0826837403 TACAG* T 0.08 -0.12 -0.05 -0.11 0.02 0.11
vg0826837403 TACAG* TGACA* -0.09 -0.14 -0.04 0.14 -0.02 -0.09
vg0826837403 TACAG* TTTTT* 0.29 -0.12 -0.01 0.08 -0.02 -0.19

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0826837403 NA 1.46E-08 mr1045 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
vg0826837403 NA 3.45E-06 mr1561 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
vg0826837403 NA 1.71E-06 mr1614 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
vg0826837403 NA 1.43E-12 mr1769 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
vg0826837403 NA 2.56E-08 mr1937 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
vg0826837403 NA 5.43E-09 mr1951 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
vg0826837403 NA 9.22E-06 mr1215_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
vg0826837403 NA 1.16E-08 mr1498_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
vg0826837403 NA 9.84E-12 mr1769_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
vg0826837403 NA 2.13E-06 mr1943_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
vg0826837403 NA 6.31E-06 mr1951_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