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Detailed information for vg0522974317:

Variant ID: vg0522974317 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 22974317
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 268. )

Flanking Sequence (100 bp) in Reference Genome:


CCTCCCGTTCAAAACAATCGCTTCGCTTTTCGCTCTACTCGTACGATCGTTCCAAATAGAGGAATTTTTTCGAAAGCCCGGACCTCGTGAACCAACTCCA[C/T]
CCATGGACTACTATAACTGACAAGTGGGACCCAGAAAAGCTGTTCTCACTGCACCCCCGTACAACAAGTCCACCACGCAACCAACAGATGACCATCGCTG

Reverse complement sequence

CAGCGATGGTCATCTGTTGGTTGCGTGGTGGACTTGTTGTACGGGGGTGCAGTGAGAACAGCTTTTCTGGGTCCCACTTGTCAGTTATAGTAGTCCATGG[G/A]
TGGAGTTGGTTCACGAGGTCCGGGCTTTCGAAAAAATTCCTCTATTTGGAACGATCGTACGAGTAGAGCGAAAAGCGAAGCGATTGTTTTGAACGGGAGG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 97.10% 2.80% 0.04% 0.00% NA
All Indica  2759 99.90% 0.10% 0.00% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 63.60% 36.10% 0.37% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 99.60% 0.40% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 72.90% 26.00% 1.04% 0.00% NA
Intermediate  90 93.30% 6.70% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0522974317 C -> T LOC_Os05g39180.1 upstream_gene_variant ; 178.0bp to feature; MODIFIER silent_mutation Average:98.53; most accessible tissue: Callus, score: 99.836 N N N N
vg0522974317 C -> T LOC_Os05g39190.1 upstream_gene_variant ; 4287.0bp to feature; MODIFIER silent_mutation Average:98.53; most accessible tissue: Callus, score: 99.836 N N N N
vg0522974317 C -> T LOC_Os05g39170.1 downstream_gene_variant ; 2536.0bp to feature; MODIFIER silent_mutation Average:98.53; most accessible tissue: Callus, score: 99.836 N N N N
vg0522974317 C -> T LOC_Os05g39170-LOC_Os05g39180 intergenic_region ; MODIFIER silent_mutation Average:98.53; most accessible tissue: Callus, score: 99.836 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)
vg0522974317 C T -0.1 -0.13 -0.12 -0.11 -0.09 -0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0522974317 NA 6.43E-06 mr1006 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
vg0522974317 NA 9.24E-06 mr1043 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
vg0522974317 NA 2.66E-06 mr1052 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
vg0522974317 4.56E-06 1.95E-06 mr1185 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
vg0522974317 NA 2.11E-06 mr1633 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
vg0522974317 NA 3.12E-07 mr1677 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
vg0522974317 NA 8.12E-08 mr1989 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
vg0522974317 NA 2.16E-06 mr1465_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
vg0522974317 NA 9.35E-11 mr1612_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