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Detailed information for vg0327430028:

Variant ID: vg0327430028 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 27430028
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, A: 0.00, others allele: 0.00, population size: 245. )

Flanking Sequence (100 bp) in Reference Genome:


ACTGGAACAGCCTTTTTATGGCCATTTGCTGTTATGAGATTATGACCTCAATAACATGGGCTGTGTTTAGTTCGCGTGCCAAATTTTTTGAAACTATACG[G/C]
ACACACATTTGAAGTATTAAACGTACAAAACAAATTACAGATTCCACCTGTAAACTGTGAGACGAATTTATTAAGCCTAATTAATCTATCATTAGTAAAT

Reverse complement sequence

ATTTACTAATGATAGATTAATTAGGCTTAATAAATTCGTCTCACAGTTTACAGGTGGAATCTGTAATTTGTTTTGTACGTTTAATACTTCAAATGTGTGT[C/G]
CGTATAGTTTCAAAAAATTTGGCACGCGAACTAAACACAGCCCATGTTATTGAGGTCATAATCTCATAACAGCAAATGGCCATAAAAAGGCTGTTCCAGT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 59.00% 40.50% 0.25% 0.28% NA
All Indica  2759 31.10% 68.10% 0.33% 0.40% NA
All Japonica  1512 99.20% 0.60% 0.13% 0.07% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 33.60% 66.20% 0.17% 0.00% NA
Indica II  465 58.10% 40.40% 0.22% 1.29% NA
Indica III  913 13.30% 86.50% 0.22% 0.00% NA
Indica Intermediate  786 34.10% 64.60% 0.64% 0.64% NA
Temperate Japonica  767 99.30% 0.40% 0.13% 0.13% NA
Tropical Japonica  504 99.20% 0.60% 0.20% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 73.30% 24.40% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0327430028 G -> C LOC_Os03g48190.2 downstream_gene_variant ; 1796.0bp to feature; MODIFIER silent_mutation Average:67.179; most accessible tissue: Zhenshan97 young leaf, score: 85.001 N N N N
vg0327430028 G -> C LOC_Os03g48190.1 downstream_gene_variant ; 1816.0bp to feature; MODIFIER silent_mutation Average:67.179; most accessible tissue: Zhenshan97 young leaf, score: 85.001 N N N N
vg0327430028 G -> C LOC_Os03g48180-LOC_Os03g48190 intergenic_region ; MODIFIER silent_mutation Average:67.179; most accessible tissue: Zhenshan97 young leaf, score: 85.001 N N N N
vg0327430028 G -> DEL N N silent_mutation Average:67.179; most accessible tissue: Zhenshan97 young leaf, score: 85.001 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)
vg0327430028 G C -0.03 -0.06 -0.05 -0.02 -0.03 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0327430028 NA 2.56E-07 mr1193 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
vg0327430028 NA 7.76E-06 mr1632 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
vg0327430028 3.21E-11 NA mr1193_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
vg0327430028 9.50E-10 2.29E-15 mr1193_2 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
vg0327430028 NA 1.66E-14 mr1514_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