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Detailed information for vg0528854599:

Variant ID: vg0528854599 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 28854599
Reference Allele: TAAlternative Allele: AA,TAA,T,TAAAA
Primary Allele: TASecondary Allele: AA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGAGAAATAATGAACCAAACACAAGAAAAAAAAACTAGCAGAAACTATATTTTCAGTCTAAAATGTTGTTTTTTTCTTCACTTTTGTTTTCCTTTTTTT[TA/AA,TAA,T,TAAAA]
AAAAAAATCAAACGAAAAGAAAGAGCAAACAGAAAGCGAGCCCAAAGCTGACAAAACCAAAGCAGGCCCAACCCCCCGCTACTAATTTCACAAACGTGGG

Reverse complement sequence

CCCACGTTTGTGAAATTAGTAGCGGGGGGTTGGGCCTGCTTTGGTTTTGTCAGCTTTGGGCTCGCTTTCTGTTTGCTCTTTCTTTTCGTTTGATTTTTTT[TA/TT,TTA,A,TTTTA]
AAAAAAAGGAAAACAAAAGTGAAGAAAAAAACAACATTTTAGACTGAAAATATAGTTTCTGCTAGTTTTTTTTTCTTGTGTTTGGTTCATTATTTCTCCA

Allele Frequencies:

Populations Population SizeFrequency of TA(primary allele) Frequency of AA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 62.30% 36.20% 0.95% 0.00% TAA: 0.28%; T: 0.28%; TAAAA: 0.02%
All Indica  2759 42.20% 56.40% 0.72% 0.00% T: 0.36%; TAA: 0.25%
All Japonica  1512 90.90% 7.50% 1.12% 0.00% TAA: 0.33%; TAAAA: 0.07%
Aus  269 93.70% 4.80% 0.74% 0.00% T: 0.74%
Indica I  595 79.70% 17.60% 2.18% 0.00% TAA: 0.50%
Indica II  465 46.90% 52.70% 0.22% 0.00% TAA: 0.22%
Indica III  913 15.10% 84.00% 0.00% 0.00% T: 0.77%; TAA: 0.11%
Indica Intermediate  786 42.60% 56.00% 0.76% 0.00% T: 0.38%; TAA: 0.25%
Temperate Japonica  767 96.50% 1.80% 1.69% 0.00% NA
Tropical Japonica  504 81.20% 18.70% 0.00% 0.00% TAAAA: 0.20%
Japonica Intermediate  241 93.80% 2.50% 1.66% 0.00% TAA: 2.07%
VI/Aromatic  96 90.60% 7.30% 1.04% 0.00% TAA: 1.04%
Intermediate  90 70.00% 23.30% 5.56% 0.00% T: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0528854599 TA -> T LOC_Os05g50350.1 upstream_gene_variant ; 4165.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> T LOC_Os05g50360.1 upstream_gene_variant ; 205.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> T LOC_Os05g50350-LOC_Os05g50360 intergenic_region ; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> TAAAA LOC_Os05g50350.1 upstream_gene_variant ; 4166.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> TAAAA LOC_Os05g50360.1 upstream_gene_variant ; 204.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> TAAAA LOC_Os05g50350-LOC_Os05g50360 intergenic_region ; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> AA LOC_Os05g50350.1 upstream_gene_variant ; 4164.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> AA LOC_Os05g50360.1 upstream_gene_variant ; 206.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> AA LOC_Os05g50350-LOC_Os05g50360 intergenic_region ; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> TAA LOC_Os05g50350.1 upstream_gene_variant ; 4166.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> TAA LOC_Os05g50360.1 upstream_gene_variant ; 204.0bp to feature; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 N N N N
vg0528854599 TA -> TAA LOC_Os05g50350-LOC_Os05g50360 intergenic_region ; MODIFIER silent_mutation Average:96.791; most accessible tissue: Zhenshan97 young leaf, score: 97.55 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)
vg0528854599 TA AA 0.0 -0.01 -0.01 0.0 0.0 0.0
vg0528854599 TA T 0.03 0.02 -0.02 0.03 0.02 0.04
vg0528854599 TA TAA 0.02 0.02 -0.04 0.0 -0.03 -0.01
vg0528854599 TA TAAAA 0.0 0.04 -0.01 0.03 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0528854599 NA 2.28E-06 mr1125 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
vg0528854599 NA 2.80E-08 mr1221 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
vg0528854599 NA 2.33E-08 mr1234 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
vg0528854599 NA 1.77E-06 mr1252 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
vg0528854599 NA 3.46E-07 mr1583 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
vg0528854599 NA 2.91E-08 mr1648 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
vg0528854599 NA 2.80E-07 mr1807 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
vg0528854599 NA 7.41E-06 mr1937 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
vg0528854599 NA 5.04E-07 mr1125_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
vg0528854599 1.25E-06 1.24E-06 mr1197_2 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
vg0528854599 NA 4.45E-06 mr1197_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
vg0528854599 NA 1.51E-08 mr1220_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
vg0528854599 NA 9.95E-10 mr1221_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
vg0528854599 NA 3.65E-08 mr1583_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
vg0528854599 NA 1.62E-06 mr1807_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
vg0528854599 NA 1.68E-08 mr1850_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