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Detailed information for vg1218710263:

Variant ID: vg1218710263 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 18710263
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTATAGAGCTCTCACAAAAAATTAAATAGAGAGGTGGAGCTGGGTTTAGGCAGCTGCACAACTCTACTCCAGACCCAACTCCTGGAGCTAAATTTAGGAG[A/T]
TGGAGCTTATATATATACAAGTTGCATTTATGTTGCTTCATGCTTGTATCATGCAGAAATGCCATGGAAGATTAGAAGATGAGGAGGGCTCCATCAGAGG

Reverse complement sequence

CCTCTGATGGAGCCCTCCTCATCTTCTAATCTTCCATGGCATTTCTGCATGATACAAGCATGAAGCAACATAAATGCAACTTGTATATATATAAGCTCCA[T/A]
CTCCTAAATTTAGCTCCAGGAGTTGGGTCTGGAGTAGAGTTGTGCAGCTGCCTAAACCCAGCTCCACCTCTCTATTTAATTTTTTGTGAGAGCTCTATAC

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 63.70% 12.60% 1.54% 22.15% NA
All Indica  2759 72.40% 1.60% 1.78% 24.28% NA
All Japonica  1512 58.80% 34.90% 0.73% 5.62% NA
Aus  269 4.80% 0.70% 4.83% 89.59% NA
Indica I  595 76.60% 2.20% 0.50% 20.67% NA
Indica II  465 84.50% 2.40% 1.08% 12.04% NA
Indica III  913 68.20% 0.10% 2.74% 28.92% NA
Indica Intermediate  786 66.80% 2.30% 2.04% 28.88% NA
Temperate Japonica  767 39.10% 59.70% 0.13% 1.04% NA
Tropical Japonica  504 93.10% 2.20% 0.20% 4.56% NA
Japonica Intermediate  241 49.80% 24.10% 3.73% 22.41% NA
VI/Aromatic  96 64.60% 0.00% 0.00% 35.42% NA
Intermediate  90 56.70% 24.40% 0.00% 18.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1218710263 A -> DEL N N silent_mutation Average:82.078; most accessible tissue: Zhenshan97 panicle, score: 95.323 N N N N
vg1218710263 A -> T LOC_Os12g31110-LOC_Os12g31120 intergenic_region ; MODIFIER silent_mutation Average:82.078; most accessible tissue: Zhenshan97 panicle, score: 95.323 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)
vg1218710263 A T 0.01 -0.01 0.0 -0.03 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1218710263 NA 1.85E-06 mr1880 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
vg1218710263 2.67E-06 NA mr1458_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
vg1218710263 2.00E-06 1.02E-06 mr1458_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
vg1218710263 NA 1.12E-13 mr1959_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