Search for Variation information by Variation ID:

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

Detailed information for vg1200731266:

Variant ID: vg1200731266 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 731266
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, others allele: 0.00, population size: 103. )

Flanking Sequence (100 bp) in Reference Genome:


TTATTTCAAAGGGAATAGTGCTCTATCATACAAGCCTGACGAAAACACCAAGGCTGTGTTTAGTTCACACCAAAATTAAAAGTTTGGTTAAAATTGGAAC[G/A]
ATGTGGCGGAAAAATTAGAAGTTTGTGTATGCAGGAAAATTTTGATGTGATGAAAAAATTAAAAATTTGAAGAAATATTTTGAAACTAACACGGGCCAAG

Reverse complement sequence

CTTGGCCCGTGTTAGTTTCAAAATATTTCTTCAAATTTTTAATTTTTTCATCACATCAAAATTTTCCTGCATACACAAACTTCTAATTTTTCCGCCACAT[C/T]
GTTCCAATTTTAACCAAACTTTTAATTTTGGTGTGAACTAAACACAGCCTTGGTGTTTTCGTCAGGCTTGTATGATAGAGCACTATTCCCTTTGAAATAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 86.60% 3.00% 6.31% 4.10% NA
All Indica  2759 79.10% 4.70% 9.89% 6.27% NA
All Japonica  1512 97.90% 0.40% 0.73% 0.99% NA
Aus  269 93.30% 1.50% 3.72% 1.49% NA
Indica I  595 89.70% 1.70% 4.71% 3.87% NA
Indica II  465 67.30% 11.20% 14.62% 6.88% NA
Indica III  913 76.90% 4.80% 10.95% 7.34% NA
Indica Intermediate  786 80.70% 3.10% 9.80% 6.49% NA
Temperate Japonica  767 96.30% 0.80% 1.17% 1.69% NA
Tropical Japonica  504 99.40% 0.00% 0.40% 0.20% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 93.30% 1.10% 3.33% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1200731266 G -> DEL N N silent_mutation Average:49.281; most accessible tissue: Zhenshan97 flower, score: 83.709 N N N N
vg1200731266 G -> A LOC_Os12g02310.1 upstream_gene_variant ; 1712.0bp to feature; MODIFIER silent_mutation Average:49.281; most accessible tissue: Zhenshan97 flower, score: 83.709 N N N N
vg1200731266 G -> A LOC_Os12g02310.2 upstream_gene_variant ; 1712.0bp to feature; MODIFIER silent_mutation Average:49.281; most accessible tissue: Zhenshan97 flower, score: 83.709 N N N N
vg1200731266 G -> A LOC_Os12g02300.1 downstream_gene_variant ; 2565.0bp to feature; MODIFIER silent_mutation Average:49.281; most accessible tissue: Zhenshan97 flower, score: 83.709 N N N N
vg1200731266 G -> A LOC_Os12g02300-LOC_Os12g02310 intergenic_region ; MODIFIER silent_mutation Average:49.281; most accessible tissue: Zhenshan97 flower, score: 83.709 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)
vg1200731266 G A -0.03 -0.08 -0.09 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1200731266 2.23E-06 NA mr1335 Ind_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