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Detailed information for vg0420625673:

Variant ID: vg0420625673 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 20625673
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCTGCCGGATCTCTAGCCCGCCGCCGGCCGCCGCATCCGTCCAAGGCAGCTTCAGTGGCAGAAGCTTAGCTCCATTTCCTCTTTTCTTTTTTTTCCCCTC[C/T]
ATTTTTTTTCTCTCTCTGGTAGGCTCAAGGTGGTGGGCCCGATCACTGATGACAAATTGATTAGTGCTCCGTTTCATCCATGCGCTTTGTTAATTATTCT

Reverse complement sequence

AGAATAATTAACAAAGCGCATGGATGAAACGGAGCACTAATCAATTTGTCATCAGTGATCGGGCCCACCACCTTGAGCCTACCAGAGAGAGAAAAAAAAT[G/A]
GAGGGGAAAAAAAAGAAAAGAGGAAATGGAGCTAAGCTTCTGCCACTGAAGCTGCCTTGGACGGATGCGGCGGCCGGCGGCGGGCTAGAGATCCGGCAGG

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 77.40% 10.90% 7.60% 4.15% NA
All Indica  2759 79.30% 1.30% 12.43% 7.03% NA
All Japonica  1512 74.80% 24.90% 0.33% 0.00% NA
Aus  269 98.90% 0.40% 0.74% 0.00% NA
Indica I  595 76.80% 2.00% 19.16% 2.02% NA
Indica II  465 78.70% 0.60% 12.47% 8.17% NA
Indica III  913 83.90% 0.70% 7.12% 8.32% NA
Indica Intermediate  786 76.10% 1.80% 13.49% 8.65% NA
Temperate Japonica  767 92.20% 7.80% 0.00% 0.00% NA
Tropical Japonica  504 54.60% 44.80% 0.60% 0.00% NA
Japonica Intermediate  241 61.80% 37.30% 0.83% 0.00% NA
VI/Aromatic  96 10.40% 86.50% 3.12% 0.00% NA
Intermediate  90 70.00% 21.10% 6.67% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0420625673 C -> DEL N N silent_mutation Average:97.265; most accessible tissue: Minghui63 panicle, score: 98.821 N N N N
vg0420625673 C -> T LOC_Os04g34050.1 3_prime_UTR_variant ; 85.0bp to feature; MODIFIER silent_mutation Average:97.265; most accessible tissue: Minghui63 panicle, score: 98.821 N N N N
vg0420625673 C -> T LOC_Os04g34040.1 upstream_gene_variant ; 4319.0bp to feature; MODIFIER silent_mutation Average:97.265; most accessible tissue: Minghui63 panicle, score: 98.821 N N N N
vg0420625673 C -> T LOC_Os04g34060.1 downstream_gene_variant ; 1908.0bp to feature; MODIFIER silent_mutation Average:97.265; most accessible tissue: Minghui63 panicle, score: 98.821 N N N N
vg0420625673 C -> T LOC_Os04g34070.1 downstream_gene_variant ; 4359.0bp to feature; MODIFIER silent_mutation Average:97.265; most accessible tissue: Minghui63 panicle, score: 98.821 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)
vg0420625673 C T 0.02 0.01 0.01 0.0 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0420625673 NA 3.79E-07 mr1554 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
vg0420625673 1.13E-06 4.94E-12 mr1554_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
vg0420625673 4.48E-06 7.12E-09 mr1554_2 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
vg0420625673 NA 5.96E-06 mr1853_2 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