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Detailed information for vg0316514100:

Variant ID: vg0316514100 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 16514100
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.90, A: 0.10, others allele: 0.00, population size: 104. )

Flanking Sequence (100 bp) in Reference Genome:


TGGAAATTTTTAATTCCCTCATTATTTCACTTGTTTAAATTGATTTAACTTTTATTTAAATTCTAGAAAATGCATTATTAATTTATTTTTAATCCCGACC[G/A]
AAAATCAGGGCGTTACACGACGCCATCGGCAACTGAGATAAGGCGCAGGGACATTTAGGTCCGACCGCGTCAAAAAAGGCCTCCCGTCCGCCACGTCAGC

Reverse complement sequence

GCTGACGTGGCGGACGGGAGGCCTTTTTTGACGCGGTCGGACCTAAATGTCCCTGCGCCTTATCTCAGTTGCCGATGGCGTCGTGTAACGCCCTGATTTT[C/T]
GGTCGGGATTAAAAATAAATTAATAATGCATTTTCTAGAATTTAAATAAAAGTTAAATCAATTTAAACAAGTGAAATAATGAGGGAATTAAAAATTTCCA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 52.30% 34.30% 0.19% 13.18% NA
All Indica  2759 74.20% 20.70% 0.14% 5.00% NA
All Japonica  1512 22.80% 49.70% 0.33% 27.25% NA
Aus  269 10.40% 67.70% 0.00% 21.93% NA
Indica I  595 60.00% 40.00% 0.00% 0.00% NA
Indica II  465 92.50% 5.60% 0.00% 1.94% NA
Indica III  913 75.50% 17.40% 0.11% 7.01% NA
Indica Intermediate  786 72.50% 18.80% 0.38% 8.27% NA
Temperate Japonica  767 1.60% 55.30% 0.39% 42.76% NA
Tropical Japonica  504 61.50% 30.20% 0.20% 8.13% NA
Japonica Intermediate  241 9.10% 72.60% 0.41% 17.84% NA
VI/Aromatic  96 8.30% 87.50% 0.00% 4.17% NA
Intermediate  90 51.10% 37.80% 0.00% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0316514100 G -> A LOC_Os03g29075.1 upstream_gene_variant ; 2483.0bp to feature; MODIFIER silent_mutation Average:62.212; most accessible tissue: Minghui63 flag leaf, score: 88.103 N N N N
vg0316514100 G -> A LOC_Os03g29065.1 downstream_gene_variant ; 1082.0bp to feature; MODIFIER silent_mutation Average:62.212; most accessible tissue: Minghui63 flag leaf, score: 88.103 N N N N
vg0316514100 G -> A LOC_Os03g29065-LOC_Os03g29075 intergenic_region ; MODIFIER silent_mutation Average:62.212; most accessible tissue: Minghui63 flag leaf, score: 88.103 N N N N
vg0316514100 G -> DEL N N silent_mutation Average:62.212; most accessible tissue: Minghui63 flag leaf, score: 88.103 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)
vg0316514100 G A -0.03 -0.01 -0.01 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0316514100 NA 4.21E-06 mr1130 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
vg0316514100 NA 2.96E-06 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
vg0316514100 3.68E-06 3.68E-06 mr1168_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
vg0316514100 2.96E-06 2.96E-06 mr1470_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
vg0316514100 NA 2.94E-07 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
vg0316514100 6.60E-06 6.60E-06 mr1547_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
vg0316514100 5.84E-06 5.84E-06 mr1719_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
vg0316514100 NA 6.97E-06 mr1739_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
vg0316514100 6.82E-09 6.82E-09 mr1914_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
vg0316514100 6.02E-06 6.02E-06 mr1927_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