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Detailed information for vg1121977578:

Variant ID: vg1121977578 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 21977578
Reference Allele: GAlternative Allele: T,GTC
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TATTGATACTTGTGAGAGATACTGTGTGCCACTACTAACTTTCTCACAGACACACGAGACAAAGAGATACAGATGGATACCGCTGGGGATATATTGGGTT[G/T,GTC]
TCGCACCTTTTTCGTGCAGCTTACAAGAAATATATATCGGAGAAATCTAGCCGTCCTAATAGGCAATTAATCCTATAATGCAGAGTCCTATTAAAAAACT

Reverse complement sequence

AGTTTTTTAATAGGACTCTGCATTATAGGATTAATTGCCTATTAGGACGGCTAGATTTCTCCGATATATATTTCTTGTAAGCTGCACGAAAAAGGTGCGA[C/A,GAC]
AACCCAATATATCCCCAGCGGTATCCATCTGTATCTCTTTGTCTCGTGTGTCTGTGAGAAAGTTAGTAGTGGCACACAGTATCTCTCACAAGTATCAATA

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 82.70% 12.10% 0.30% 4.49% GTC: 0.36%
All Indica  2759 95.10% 1.00% 0.18% 3.48% GTC: 0.29%
All Japonica  1512 62.00% 35.30% 0.20% 2.18% GTC: 0.33%
Aus  269 73.60% 0.70% 1.86% 22.30% GTC: 1.49%
Indica I  595 99.00% 0.70% 0.00% 0.34% NA
Indica II  465 98.90% 0.40% 0.22% 0.43% NA
Indica III  913 91.10% 1.40% 0.22% 6.68% GTC: 0.55%
Indica Intermediate  786 94.40% 1.00% 0.25% 3.94% GTC: 0.38%
Temperate Japonica  767 78.90% 20.30% 0.13% 0.65% NA
Tropical Japonica  504 39.90% 54.80% 0.20% 4.37% GTC: 0.79%
Japonica Intermediate  241 54.40% 42.30% 0.41% 2.49% GTC: 0.41%
VI/Aromatic  96 79.20% 2.10% 1.04% 17.71% NA
Intermediate  90 84.40% 8.90% 0.00% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1121977578 G -> T LOC_Os11g37200.1 upstream_gene_variant ; 4771.0bp to feature; MODIFIER silent_mutation Average:58.077; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1121977578 G -> T LOC_Os11g37190-LOC_Os11g37200 intergenic_region ; MODIFIER silent_mutation Average:58.077; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1121977578 G -> DEL N N silent_mutation Average:58.077; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1121977578 G -> GTC LOC_Os11g37200.1 upstream_gene_variant ; 4770.0bp to feature; MODIFIER silent_mutation Average:58.077; most accessible tissue: Zhenshan97 panicle, score: 94.594 N N N N
vg1121977578 G -> GTC LOC_Os11g37190-LOC_Os11g37200 intergenic_region ; MODIFIER silent_mutation Average:58.077; most accessible tissue: Zhenshan97 panicle, score: 94.594 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)
vg1121977578 G GTC 0.05 -0.06 -0.02 -0.2 -0.21 -0.14
vg1121977578 G T -0.07 -0.03 -0.01 -0.05 -0.11 -0.14

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1121977578 NA 5.89E-07 mr1502 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
vg1121977578 NA 8.72E-08 mr1502 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
vg1121977578 NA 8.98E-06 mr1543 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
vg1121977578 NA 8.62E-07 mr1543 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
vg1121977578 NA 4.65E-06 mr1742 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
vg1121977578 NA 3.15E-14 mr1871 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
vg1121977578 NA 5.91E-06 mr1991 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
vg1121977578 NA 1.09E-21 mr1042_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
vg1121977578 NA 3.35E-11 mr1680_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
vg1121977578 NA 1.72E-13 mr1742_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
vg1121977578 1.67E-08 4.21E-25 mr1871_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
vg1121977578 NA 2.46E-08 mr1871_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