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Detailed information for vg0235318648:

Variant ID: vg0235318648 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 35318648
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.96, T: 0.04, others allele: 0.00, population size: 113. )

Flanking Sequence (100 bp) in Reference Genome:


ACATGGCACGCGTCTACGTCTTGTATGCTGCAAAATGATACTCTCTCCGTTTCAAAATATTTAACACTGTTAACTTTTTAGTACGTATTTGACCATTCGT[T/C]
TTATTCAAAAATTTAAGTAATTATTTATACTTTTCATATCATTTGATTCATTGTTAAATATACTTTCATGTACACATATAGTTTTACATATTTTATAATT

Reverse complement sequence

AATTATAAAATATGTAAAACTATATGTGTACATGAAAGTATATTTAACAATGAATCAAATGATATGAAAAGTATAAATAATTACTTAAATTTTTGAATAA[A/G]
ACGAATGGTCAAATACGTACTAAAAAGTTAACAGTGTTAAATATTTTGAAACGGAGAGAGTATCATTTTGCAGCATACAAGACGTAGACGCGTGCCATGT

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 69.80% 29.90% 0.30% 0.00% NA
All Indica  2759 74.60% 25.30% 0.07% 0.00% NA
All Japonica  1512 71.80% 27.60% 0.60% 0.00% NA
Aus  269 30.10% 69.50% 0.37% 0.00% NA
Indica I  595 43.20% 56.80% 0.00% 0.00% NA
Indica II  465 95.30% 4.70% 0.00% 0.00% NA
Indica III  913 76.90% 23.10% 0.00% 0.00% NA
Indica Intermediate  786 83.60% 16.20% 0.25% 0.00% NA
Temperate Japonica  767 91.30% 8.10% 0.65% 0.00% NA
Tropical Japonica  504 43.30% 56.00% 0.79% 0.00% NA
Japonica Intermediate  241 69.70% 30.30% 0.00% 0.00% NA
VI/Aromatic  96 16.70% 83.30% 0.00% 0.00% NA
Intermediate  90 63.30% 34.40% 2.22% 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
vg0235318648 T -> C LOC_Os02g57670.1 downstream_gene_variant ; 1665.0bp to feature; MODIFIER silent_mutation Average:66.554; most accessible tissue: Zhenshan97 root, score: 88.778 N N N N
vg0235318648 T -> C LOC_Os02g57660-LOC_Os02g57670 intergenic_region ; MODIFIER silent_mutation Average:66.554; most accessible tissue: Zhenshan97 root, score: 88.778 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)
vg0235318648 T C -0.01 -0.01 -0.01 -0.01 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0235318648 NA 3.74E-06 mr1082 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
vg0235318648 1.94E-06 NA mr1448 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
vg0235318648 NA 8.04E-08 mr1942 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
vg0235318648 NA 1.24E-06 mr1942 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
vg0235318648 NA 1.22E-06 mr1013_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
vg0235318648 NA 2.72E-06 mr1194_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
vg0235318648 NA 3.27E-06 mr1295_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
vg0235318648 NA 8.55E-06 mr1482_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
vg0235318648 NA 2.61E-06 mr1558_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
vg0235318648 NA 1.98E-09 mr1565_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