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Detailed information for vg0907397102:

Variant ID: vg0907397102 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 7397102
Reference Allele: AAlternative Allele: C,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.94, A: 0.06, others allele: 0.00, population size: 111. )

Flanking Sequence (100 bp) in Reference Genome:


CTACCTACATTTCTTTTTTTTCTAAATTACACAGTACAACCCACACACCCACAACACACACGCACTCACCCCTATAAACACACGCACGCAAACCCTACCC[A/C,T]
TATGAGCATCTTCGAAAACTGGACCGGCAAATCTTGGAGAGATCGACGAAGTCACCATAGGCGCCTCACTGTCGACGGGTACGTCGTCTACCACTGAAAG

Reverse complement sequence

CTTTCAGTGGTAGACGACGTACCCGTCGACAGTGAGGCGCCTATGGTGACTTCGTCGATCTCTCCAAGATTTGCCGGTCCAGTTTTCGAAGATGCTCATA[T/G,A]
GGGTAGGGTTTGCGTGCGTGTGTTTATAGGGGTGAGTGCGTGTGTGTTGTGGGTGTGTGGGTTGTACTGTGTAATTTAGAAAAAAAAGAAATGTAGGTAG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.80% 26.20% 0.15% 0.80% NA
All Indica  2759 96.50% 2.50% 0.22% 0.80% NA
All Japonica  1512 34.00% 66.00% 0.00% 0.00% NA
Aus  269 82.50% 11.90% 0.00% 5.58% NA
Indica I  595 97.10% 2.70% 0.17% 0.00% NA
Indica II  465 93.50% 3.70% 0.00% 2.80% NA
Indica III  913 98.40% 1.00% 0.11% 0.55% NA
Indica Intermediate  786 95.50% 3.40% 0.51% 0.51% NA
Temperate Japonica  767 31.40% 68.60% 0.00% 0.00% NA
Tropical Japonica  504 24.80% 75.20% 0.00% 0.00% NA
Japonica Intermediate  241 61.40% 38.60% 0.00% 0.00% NA
VI/Aromatic  96 5.20% 94.80% 0.00% 0.00% NA
Intermediate  90 43.30% 54.40% 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
vg0907397102 A -> DEL N N silent_mutation Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> T LOC_Os09g12850.1 downstream_gene_variant ; 419.0bp to feature; MODIFIER N Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> T LOC_Os09g12860.1 downstream_gene_variant ; 2010.0bp to feature; MODIFIER N Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> T LOC_Os09g12870.1 downstream_gene_variant ; 4985.0bp to feature; MODIFIER N Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> T LOC_Os09g12850-LOC_Os09g12860 intergenic_region ; MODIFIER N Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> C LOC_Os09g12850.1 downstream_gene_variant ; 419.0bp to feature; MODIFIER silent_mutation Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> C LOC_Os09g12860.1 downstream_gene_variant ; 2010.0bp to feature; MODIFIER silent_mutation Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> C LOC_Os09g12870.1 downstream_gene_variant ; 4985.0bp to feature; MODIFIER silent_mutation Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 N N N N
vg0907397102 A -> C LOC_Os09g12850-LOC_Os09g12860 intergenic_region ; MODIFIER silent_mutation Average:73.495; most accessible tissue: Zhenshan97 panicle, score: 91.693 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)
vg0907397102 A C 0.02 -0.01 -0.01 0.03 0.01 0.01
vg0907397102 A T 0.01 -0.05 -0.03 -0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0907397102 NA 3.20E-08 mr1442 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
vg0907397102 1.07E-06 NA mr1679 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
vg0907397102 NA 8.00E-06 mr1438_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
vg0907397102 4.34E-06 NA mr1679_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