Search for Variation information by Variation ID:

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

Detailed information for vg0314310971:

Variant ID: vg0314310971 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 14310971
Reference Allele: CAlternative Allele: A
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.79, C: 0.21, others allele: 0.00, population size: 218. )

Flanking Sequence (100 bp) in Reference Genome:


CTAAAACTTGTATTTTTCCTTGTAAGTATCAATCAAAATTCAGGCGACCACTCTAAGAAAATTATGAGATACTACAAGGCACCTAATTAAACCAAGCTGC[C/A]
AAAGGTTTGACCTTAAGTTGGGTGGGAACCGCACTCCAGCACCATCTCTCAGTTTTTTTATTCAACCACCTCTTAAGTTTTCACAAGTGAAGTATAACAC

Reverse complement sequence

GTGTTATACTTCACTTGTGAAAACTTAAGAGGTGGTTGAATAAAAAAACTGAGAGATGGTGCTGGAGTGCGGTTCCCACCCAACTTAAGGTCAAACCTTT[G/T]
GCAGCTTGGTTTAATTAGGTGCCTTGTAGTATCTCATAATTTTCTTAGAGTGGTCGCCTGAATTTTGATTGATACTTACAAGGAAAAATACAAGTTTTAG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 52.30% 47.40% 0.04% 0.28% NA
All Indica  2759 79.80% 19.70% 0.04% 0.47% NA
All Japonica  1512 1.20% 98.80% 0.00% 0.00% NA
Aus  269 72.10% 27.90% 0.00% 0.00% NA
Indica I  595 61.00% 38.30% 0.00% 0.67% NA
Indica II  465 58.90% 40.20% 0.22% 0.65% NA
Indica III  913 96.20% 3.70% 0.00% 0.11% NA
Indica Intermediate  786 87.40% 12.00% 0.00% 0.64% NA
Temperate Japonica  767 0.10% 99.90% 0.00% 0.00% NA
Tropical Japonica  504 2.80% 97.20% 0.00% 0.00% NA
Japonica Intermediate  241 1.20% 98.80% 0.00% 0.00% NA
VI/Aromatic  96 26.00% 74.00% 0.00% 0.00% NA
Intermediate  90 34.40% 64.40% 1.11% 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
vg0314310971 C -> A LOC_Os03g25060-LOC_Os03g25070 intergenic_region ; MODIFIER silent_mutation Average:62.795; most accessible tissue: Minghui63 root, score: 91.96 N N N N
vg0314310971 C -> DEL N N silent_mutation Average:62.795; most accessible tissue: Minghui63 root, score: 91.96 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)
vg0314310971 C A -0.15 -0.02 -0.02 -0.01 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0314310971 NA 6.52E-07 mr1094 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
vg0314310971 NA 9.57E-18 mr1133 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
vg0314310971 2.10E-08 NA mr1542 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
vg0314310971 2.38E-08 1.04E-11 mr1542 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
vg0314310971 NA 1.26E-07 mr1877 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
vg0314310971 NA 5.43E-06 mr1096_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
vg0314310971 7.37E-10 NA mr1542_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
vg0314310971 5.69E-11 1.17E-14 mr1542_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
vg0314310971 6.73E-06 NA mr1587_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
vg0314310971 NA 1.16E-07 mr1877_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