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Detailed information for vg0523419504:

Variant ID: vg0523419504 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 23419504
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGAGTCCTTTTAGGCCCTGTTTGAATTCCTGAATTGGGCCTTAAATTAGGAATTCAATTGGAGGCCCAGTACAATTCAATACTCCTTTACTACACGGAT[C/T]
GCGGTCACGTCACGTGGTCCATAGTCCAGAGTCCCGAGCGCGGGAAAGGGCACCTCTTCCCGCCACACCGCGCGCCTCTTCCCGCCAAGACGTGCCCTGT

Reverse complement sequence

ACAGGGCACGTCTTGGCGGGAAGAGGCGCGCGGTGTGGCGGGAAGAGGTGCCCTTTCCCGCGCTCGGGACTCTGGACTATGGACCACGTGACGTGACCGC[G/A]
ATCCGTGTAGTAAAGGAGTATTGAATTGTACTGGGCCTCCAATTGAATTCCTAATTTAAGGCCCAATTCAGGAATTCAAACAGGGCCTAAAAGGACTCCA

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 81.10% 4.00% 8.08% 6.77% NA
All Indica  2759 76.00% 0.30% 12.90% 10.76% NA
All Japonica  1512 99.90% 0.00% 0.00% 0.13% NA
Aus  269 33.80% 55.00% 6.32% 4.83% NA
Indica I  595 78.20% 0.00% 15.97% 5.88% NA
Indica II  465 75.10% 0.00% 14.84% 10.11% NA
Indica III  913 75.80% 0.20% 8.87% 15.12% NA
Indica Intermediate  786 75.20% 0.90% 14.12% 9.80% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.00% 0.00% 0.40% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 68.80% 31.20% 0.00% 0.00% NA
Intermediate  90 77.80% 3.30% 10.00% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0523419504 C -> T LOC_Os05g39850.1 upstream_gene_variant ; 89.0bp to feature; MODIFIER silent_mutation Average:98.794; most accessible tissue: Callus, score: 99.716 N N N N
vg0523419504 C -> T LOC_Os05g39840.1 downstream_gene_variant ; 163.0bp to feature; MODIFIER silent_mutation Average:98.794; most accessible tissue: Callus, score: 99.716 N N N N
vg0523419504 C -> T LOC_Os05g39840-LOC_Os05g39850 intergenic_region ; MODIFIER silent_mutation Average:98.794; most accessible tissue: Callus, score: 99.716 N N N N
vg0523419504 C -> DEL N N silent_mutation Average:98.794; most accessible tissue: Callus, score: 99.716 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)
vg0523419504 C T 0.01 -0.02 -0.02 0.03 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0523419504 NA 1.04E-07 mr1126_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
vg0523419504 1.50E-06 NA mr1542_2 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
vg0523419504 3.33E-06 NA mr1587_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
vg0523419504 NA 1.16E-09 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