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Detailed information for vg0317097954:

Variant ID: vg0317097954 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 17097954
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.03, others allele: 0.00, population size: 116. )

Flanking Sequence (100 bp) in Reference Genome:


TCGTAAACACAGAGAGAATCAATAAAGTCGTCATCCACTTTAAGAGTTCTTCGATTTGTGATTCATCGGGTTTCGACGGTCTAACCGGCGATCTACCGGC[A/G]
GTCAGACCGGCGGTAAGCGGCGGTCAGACCAAAGGGAGCACGGCAGTCAGACCTGTGGTAGCGACAGCGAGCGGCAGCTGATCTCAGCGGTCAGACCGGA

Reverse complement sequence

TCCGGTCTGACCGCTGAGATCAGCTGCCGCTCGCTGTCGCTACCACAGGTCTGACTGCCGTGCTCCCTTTGGTCTGACCGCCGCTTACCGCCGGTCTGAC[T/C]
GCCGGTAGATCGCCGGTTAGACCGTCGAAACCCGATGAATCACAAATCGAAGAACTCTTAAAGTGGATGACGACTTTATTGATTCTCTCTGTGTTTACGA

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 62.00% 37.50% 0.36% 0.11% NA
All Indica  2759 90.00% 9.50% 0.36% 0.14% NA
All Japonica  1512 4.20% 95.50% 0.26% 0.07% NA
Aus  269 94.40% 5.60% 0.00% 0.00% NA
Indica I  595 97.50% 1.00% 1.18% 0.34% NA
Indica II  465 88.20% 11.60% 0.00% 0.22% NA
Indica III  913 84.10% 15.80% 0.00% 0.11% NA
Indica Intermediate  786 92.20% 7.40% 0.38% 0.00% NA
Temperate Japonica  767 0.80% 98.70% 0.52% 0.00% NA
Tropical Japonica  504 10.70% 89.30% 0.00% 0.00% NA
Japonica Intermediate  241 1.20% 98.30% 0.00% 0.41% NA
VI/Aromatic  96 83.30% 16.70% 0.00% 0.00% NA
Intermediate  90 56.70% 40.00% 3.33% 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
vg0317097954 A -> DEL N N silent_mutation Average:73.981; most accessible tissue: Zhenshan97 flag leaf, score: 91.812 N N N N
vg0317097954 A -> G LOC_Os03g29980.2 downstream_gene_variant ; 1684.0bp to feature; MODIFIER silent_mutation Average:73.981; most accessible tissue: Zhenshan97 flag leaf, score: 91.812 N N N N
vg0317097954 A -> G LOC_Os03g29980-LOC_Os03g29990 intergenic_region ; MODIFIER silent_mutation Average:73.981; most accessible tissue: Zhenshan97 flag leaf, score: 91.812 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)
vg0317097954 A G 0.02 0.02 0.01 0.01 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0317097954 NA 1.70E-06 mr1063_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
vg0317097954 NA 2.53E-06 mr1252_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
vg0317097954 NA 5.46E-09 mr1299_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
vg0317097954 NA 1.41E-11 mr1377_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
vg0317097954 4.34E-06 4.34E-06 mr1377_2 Jap_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
vg0317097954 NA 3.88E-06 mr1391_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
vg0317097954 NA 1.42E-18 mr1637_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
vg0317097954 NA 8.15E-08 mr1700_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
vg0317097954 NA 1.18E-06 mr1727_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
vg0317097954 NA 5.88E-08 mr1837_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
vg0317097954 NA 1.84E-18 mr1945_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