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Detailed information for vg0803804778:

Variant ID: vg0803804778 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 3804778
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 55. )

Flanking Sequence (100 bp) in Reference Genome:


GGGTCATGCTGACAGGTGGAGTCCACGTGGGTCCAACGCTAACTCAGCCGCCACGTCGGATAAAACCGAGGGCAAAATAACCGAAGGACCTAAAGCGGAC[G/A]
GTTTTGTAAGTTGAGGGATGCCTTATATCTGGTTTTGCGGTTGGGGGACGATTTTGTAACTCAATGACAAGTTGAGGGACCTTTGGTGTACTTTTTCCTA

Reverse complement sequence

TAGGAAAAAGTACACCAAAGGTCCCTCAACTTGTCATTGAGTTACAAAATCGTCCCCCAACCGCAAAACCAGATATAAGGCATCCCTCAACTTACAAAAC[C/T]
GTCCGCTTTAGGTCCTTCGGTTATTTTGCCCTCGGTTTTATCCGACGTGGCGGCTGAGTTAGCGTTGGACCCACGTGGACTCCACCTGTCAGCATGACCC

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 79.60% 5.30% 5.46% 9.63% NA
All Indica  2759 84.60% 8.40% 3.48% 3.55% NA
All Japonica  1512 66.20% 0.90% 10.12% 22.75% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 92.30% 3.70% 2.35% 1.68% NA
Indica II  465 46.90% 30.50% 12.26% 10.32% NA
Indica III  913 97.90% 0.00% 0.11% 1.97% NA
Indica Intermediate  786 85.60% 8.50% 3.05% 2.80% NA
Temperate Japonica  767 68.60% 1.40% 11.47% 18.51% NA
Tropical Japonica  504 63.10% 0.40% 8.53% 27.98% NA
Japonica Intermediate  241 65.10% 0.40% 9.13% 25.31% NA
VI/Aromatic  96 96.90% 0.00% 1.04% 2.08% NA
Intermediate  90 73.30% 5.60% 8.89% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0803804778 G -> A LOC_Os08g06810.1 downstream_gene_variant ; 1727.0bp to feature; MODIFIER silent_mutation Average:79.959; most accessible tissue: Zhenshan97 young leaf, score: 87.993 N N N N
vg0803804778 G -> A LOC_Os08g06820.1 downstream_gene_variant ; 1168.0bp to feature; MODIFIER silent_mutation Average:79.959; most accessible tissue: Zhenshan97 young leaf, score: 87.993 N N N N
vg0803804778 G -> A LOC_Os08g06810-LOC_Os08g06820 intergenic_region ; MODIFIER silent_mutation Average:79.959; most accessible tissue: Zhenshan97 young leaf, score: 87.993 N N N N
vg0803804778 G -> DEL N N silent_mutation Average:79.959; most accessible tissue: Zhenshan97 young leaf, score: 87.993 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)
vg0803804778 G A -0.21 -0.16 -0.14 -0.22 -0.21 -0.19

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0803804778 NA 1.73E-08 mr1565 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
vg0803804778 1.48E-06 NA mr1695 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
vg0803804778 NA 2.73E-08 mr1347_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
vg0803804778 NA 4.53E-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