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Detailed information for vg0800721786:

Variant ID: vg0800721786 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 721786
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGGCGGAGGAGGAAGGCGCCGGCGCCGGAGGAGAGGAGGACGGAGGCGGAGTTGGTGACGACGAAGAGGAGCATCGTCAGCATGGTCGTGCCGCACCGG[A/C]
AGTAGCGCCGCCGCCTCCCCATCGCCGGCGACTTCTTGCTCTTACCGTCGCAGTACGGATCCATGGCAGCTAGCTAGCTACTGGCGATCGATCTTGGGTG

Reverse complement sequence

CACCCAAGATCGATCGCCAGTAGCTAGCTAGCTGCCATGGATCCGTACTGCGACGGTAAGAGCAAGAAGTCGCCGGCGATGGGGAGGCGGCGGCGCTACT[T/G]
CCGGTGCGGCACGACCATGCTGACGATGCTCCTCTTCGTCGTCACCAACTCCGCCTCCGTCCTCCTCTCCTCCGGCGCCGGCGCCTTCCTCCTCCGCCGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.30% 38.50% 0.21% 0.00% NA
All Indica  2759 91.30% 8.40% 0.29% 0.00% NA
All Japonica  1512 3.70% 96.30% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 91.10% 8.70% 0.17% 0.00% NA
Indica II  465 97.60% 2.20% 0.22% 0.00% NA
Indica III  913 90.50% 9.20% 0.33% 0.00% NA
Indica Intermediate  786 88.80% 10.80% 0.38% 0.00% NA
Temperate Japonica  767 1.60% 98.40% 0.00% 0.00% NA
Tropical Japonica  504 7.70% 92.30% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.90% 0.00% 0.00% NA
VI/Aromatic  96 5.20% 93.80% 1.04% 0.00% NA
Intermediate  90 51.10% 47.80% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0800721786 A -> C LOC_Os08g02150.1 missense_variant ; p.Phe22Cys; MODERATE nonsynonymous_codon ; F22C Average:95.235; most accessible tissue: Zhenshan97 flag leaf, score: 96.346 unknown unknown TOLERATED 0.18

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)
vg0800721786 A C -0.01 -0.02 -0.04 0.01 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0800721786 NA 9.95E-10 mr1191 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
vg0800721786 NA 2.13E-07 mr1785 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
vg0800721786 NA 2.06E-11 mr1216_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