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Detailed information for vg1001305839:

Variant ID: vg1001305839 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 1305839
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.83, C: 0.17, others allele: 0.00, population size: 54. )

Flanking Sequence (100 bp) in Reference Genome:


TGTGGGATGTACCCTGGGGAAAAATATTTACAAATACACTTTTTTTTAATAATTTACGTTTATATACATCAATAACAAAGTTTTGTAAAAATATACCCAT[T/C]
CTGTGGATCCAAAATACGGTACCGACACGGTCCCGCAGCCCGAAAATGCAGGACCTGAACAGTCCCGCGGTCCCAAAACGCGCAACCGCGGCACCATTGA

Reverse complement sequence

TCAATGGTGCCGCGGTTGCGCGTTTTGGGACCGCGGGACTGTTCAGGTCCTGCATTTTCGGGCTGCGGGACCGTGTCGGTACCGTATTTTGGATCCACAG[A/G]
ATGGGTATATTTTTACAAAACTTTGTTATTGATGTATATAAACGTAAATTATTAAAAAAAAGTGTATTTGTAAATATTTTTCCCCAGGGTACATCCCACA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 57.30% 7.20% 2.75% 32.71% NA
All Indica  2759 54.60% 11.10% 2.07% 32.26% NA
All Japonica  1512 58.00% 0.50% 4.50% 36.97% NA
Aus  269 91.40% 3.00% 0.00% 5.58% NA
Indica I  595 71.30% 2.50% 2.86% 23.36% NA
Indica II  465 41.90% 5.80% 3.01% 49.25% NA
Indica III  913 46.40% 20.00% 0.88% 32.64% NA
Indica Intermediate  786 58.90% 10.30% 2.29% 28.50% NA
Temperate Japonica  767 81.90% 0.30% 4.04% 13.82% NA
Tropical Japonica  504 33.10% 0.60% 3.17% 63.10% NA
Japonica Intermediate  241 34.00% 1.20% 8.71% 56.02% NA
VI/Aromatic  96 31.20% 9.40% 1.04% 58.33% NA
Intermediate  90 55.60% 11.10% 4.44% 28.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1001305839 T -> C LOC_Os10g03100.1 upstream_gene_variant ; 2575.0bp to feature; MODIFIER silent_mutation Average:58.943; most accessible tissue: Minghui63 panicle, score: 98.071 N N N N
vg1001305839 T -> C LOC_Os10g03090.1 downstream_gene_variant ; 4476.0bp to feature; MODIFIER silent_mutation Average:58.943; most accessible tissue: Minghui63 panicle, score: 98.071 N N N N
vg1001305839 T -> C LOC_Os10g03090-LOC_Os10g03100 intergenic_region ; MODIFIER silent_mutation Average:58.943; most accessible tissue: Minghui63 panicle, score: 98.071 N N N N
vg1001305839 T -> DEL N N silent_mutation Average:58.943; most accessible tissue: Minghui63 panicle, score: 98.071 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)
vg1001305839 T C 0.05 0.04 0.02 0.04 0.04 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1001305839 9.28E-25 7.95E-21 mr1486 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
vg1001305839 3.70E-21 1.06E-18 mr1548 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
vg1001305839 1.18E-11 2.13E-08 mr1588 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
vg1001305839 4.19E-28 3.28E-22 mr1486_2 Ind_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
vg1001305839 2.52E-21 1.85E-11 mr1588_2 Ind_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