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Detailed information for vg0315668204:

Variant ID: vg0315668204 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 15668204
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, C: 0.01, others allele: 0.00, population size: 109. )

Flanking Sequence (100 bp) in Reference Genome:


TCCAACCCGTTTCAATTCCCACGCACGTCACTCCTCCCACGTCTCCACCTCTTCTCCCGCCGCCTTCTCCTTATTTTTTCCTCTCGCCATCACACATCTC[T/C]
CCACTTCCACCTCCACCTCCATGGCGCCCACCACCACATGCCAACGCATCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCGCCATTGCTCGGCCTGCCTC

Reverse complement sequence

GAGGCAGGCCGAGCAATGGCGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGATGCGTTGGCATGTGGTGGTGGGCGCCATGGAGGTGGAGGTGGAAGTGG[A/G]
GAGATGTGTGATGGCGAGAGGAAAAAATAAGGAGAAGGCGGCGGGAGAAGAGGTGGAGACGTGGGAGGAGTGACGTGCGTGGGAATTGAAACGGGTTGGA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 32.40% 9.80% 26.85% 31.00% NA
All Indica  2759 5.00% 13.40% 35.81% 45.78% NA
All Japonica  1512 75.10% 4.40% 11.77% 8.73% NA
Aus  269 56.90% 4.80% 23.79% 14.50% NA
Indica I  595 1.00% 9.10% 58.32% 31.60% NA
Indica II  465 1.10% 13.30% 38.71% 46.88% NA
Indica III  913 6.90% 16.50% 21.36% 55.20% NA
Indica Intermediate  786 8.00% 13.20% 33.84% 44.91% NA
Temperate Japonica  767 95.80% 0.70% 2.09% 1.43% NA
Tropical Japonica  504 43.70% 10.50% 25.00% 20.83% NA
Japonica Intermediate  241 75.10% 3.30% 14.94% 6.64% NA
VI/Aromatic  96 78.10% 3.10% 11.46% 7.29% NA
Intermediate  90 32.20% 10.00% 31.11% 26.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0315668204 T -> C LOC_Os03g27360.1 upstream_gene_variant ; 21.0bp to feature; MODIFIER silent_mutation Average:84.744; most accessible tissue: Minghui63 root, score: 98.465 N N N N
vg0315668204 T -> C LOC_Os03g27350.1 downstream_gene_variant ; 2537.0bp to feature; MODIFIER silent_mutation Average:84.744; most accessible tissue: Minghui63 root, score: 98.465 N N N N
vg0315668204 T -> C LOC_Os03g27350.2 downstream_gene_variant ; 2534.0bp to feature; MODIFIER silent_mutation Average:84.744; most accessible tissue: Minghui63 root, score: 98.465 N N N N
vg0315668204 T -> C LOC_Os03g27350.3 downstream_gene_variant ; 2534.0bp to feature; MODIFIER silent_mutation Average:84.744; most accessible tissue: Minghui63 root, score: 98.465 N N N N
vg0315668204 T -> C LOC_Os03g27350-LOC_Os03g27360 intergenic_region ; MODIFIER silent_mutation Average:84.744; most accessible tissue: Minghui63 root, score: 98.465 N N N N
vg0315668204 T -> DEL N N silent_mutation Average:84.744; most accessible tissue: Minghui63 root, score: 98.465 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)
vg0315668204 T C 0.04 0.02 0.0 -0.03 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0315668204 NA 3.84E-06 mr1118 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
vg0315668204 3.63E-06 8.19E-06 mr1931 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
vg0315668204 NA 1.87E-11 mr1938 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