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Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0812088715:

Variant ID: vg0812088715 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 12088715
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGCGCATTCAGCTTGCGCCCAGGAACCCACCTCCGCCCGCAGCTCCCGCAGCTCCTCTAGTTCCGCCTGCAGTTCCCGCAGCTCCTGCAGCTCCAGCTCC[A/T]
GTCCCGGCTCCAGTCCCAGTGTCAGCTCCCTGCGTCCGCTCTCTCCTTCGCTCCAGCATCAGCCGCCAGGGGTCCAGCCAGTGGCAATGGAGGTTGGTTG

Reverse complement sequence

CAACCAACCTCCATTGCCACTGGCTGGACCCCTGGCGGCTGATGCTGGAGCGAAGGAGAGAGCGGACGCAGGGAGCTGACACTGGGACTGGAGCCGGGAC[T/A]
GGAGCTGGAGCTGCAGGAGCTGCGGGAACTGCAGGCGGAACTAGAGGAGCTGCGGGAGCTGCGGGCGGAGGTGGGTTCCTGGGCGCAAGCTGAATGCGCA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 51.90% 39.50% 4.02% 4.59% NA
All Indica  2759 84.60% 6.40% 6.67% 2.36% NA
All Japonica  1512 2.40% 87.90% 0.20% 9.46% NA
Aus  269 16.70% 82.90% 0.37% 0.00% NA
Indica I  595 97.30% 0.70% 0.50% 1.51% NA
Indica II  465 87.30% 5.80% 4.73% 2.15% NA
Indica III  913 78.50% 6.10% 13.36% 1.97% NA
Indica Intermediate  786 80.40% 11.30% 4.71% 3.56% NA
Temperate Japonica  767 2.10% 97.70% 0.00% 0.26% NA
Tropical Japonica  504 2.00% 72.40% 0.60% 25.00% NA
Japonica Intermediate  241 4.60% 89.20% 0.00% 6.22% NA
VI/Aromatic  96 2.10% 91.70% 1.04% 5.21% NA
Intermediate  90 36.70% 57.80% 1.11% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0812088715 A -> T LOC_Os08g20170.1 synonymous_variant ; p.Pro232Pro; LOW synonymous_codon Average:70.597; most accessible tissue: Minghui63 young leaf, score: 87.217 N N N N
vg0812088715 A -> DEL LOC_Os08g20170.1 N frameshift_variant Average:70.597; most accessible tissue: Minghui63 young leaf, score: 87.217 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)
vg0812088715 A T 0.0 -0.01 -0.01 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0812088715 NA 8.99E-09 mr1134 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
vg0812088715 1.61E-06 NA mr1135 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
vg0812088715 NA 4.05E-08 mr1135 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
vg0812088715 NA 2.69E-22 mr1422 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
vg0812088715 NA 1.21E-08 mr1504 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
vg0812088715 NA 2.02E-18 mr1583 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
vg0812088715 NA 4.84E-07 mr1583 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
vg0812088715 NA 9.00E-06 mr1672 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
vg0812088715 NA 2.04E-06 mr1835 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
vg0812088715 NA 1.01E-08 mr1134_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
vg0812088715 NA 1.33E-26 mr1422_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
vg0812088715 NA 3.48E-14 mr1583_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
vg0812088715 NA 1.96E-13 mr1850_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