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Detailed information for vg0403658880:

Variant ID: vg0403658880 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 3658880
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTCTATGGATATCTTTCGATTTCTGGTCCATTGATTTCGTGTTTAGATTCGTGCTGGTTGCCAGAGATCCATTGATTTCGTGTTTAGATTCGTGCTGGT[C/T]
GCCAGAGATAAAAATCACAGCAAACTGCAAGAACAAAAACTCAGCAAACTGCAAGAACAGGGATTCGATCCTAGGACCAACTGGTCGCACGCATCACGCC

Reverse complement sequence

GGCGTGATGCGTGCGACCAGTTGGTCCTAGGATCGAATCCCTGTTCTTGCAGTTTGCTGAGTTTTTGTTCTTGCAGTTTGCTGTGATTTTTATCTCTGGC[G/A]
ACCAGCACGAATCTAAACACGAAATCAATGGATCTCTGGCAACCAGCACGAATCTAAACACGAAATCAATGGACCAGAAATCGAAAGATATCCATAGAAA

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 83.10% 0.80% 3.58% 12.46% NA
All Indica  2759 87.90% 0.80% 5.04% 6.34% NA
All Japonica  1512 78.20% 0.90% 1.59% 19.31% NA
Aus  269 54.60% 0.70% 1.86% 42.75% NA
Indica I  595 90.60% 0.30% 7.39% 1.68% NA
Indica II  465 79.60% 2.40% 6.24% 11.83% NA
Indica III  913 92.20% 0.20% 2.30% 5.26% NA
Indica Intermediate  786 85.60% 0.80% 5.73% 7.89% NA
Temperate Japonica  767 64.90% 0.30% 2.22% 32.59% NA
Tropical Japonica  504 94.80% 1.80% 0.60% 2.78% NA
Japonica Intermediate  241 85.50% 1.20% 1.66% 11.62% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 90.00% 2.20% 1.11% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0403658880 C -> DEL N N silent_mutation Average:75.052; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0403658880 C -> T LOC_Os04g06920.1 upstream_gene_variant ; 976.0bp to feature; MODIFIER silent_mutation Average:75.052; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0403658880 C -> T LOC_Os04g06940.1 downstream_gene_variant ; 4018.0bp to feature; MODIFIER silent_mutation Average:75.052; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0403658880 C -> T LOC_Os04g06920-LOC_Os04g06940 intergenic_region ; MODIFIER silent_mutation Average:75.052; most accessible tissue: Minghui63 panicle, score: 90.624 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)
vg0403658880 C T -0.02 -0.02 -0.01 -0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0403658880 NA 2.74E-07 mr1037 Ind_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
vg0403658880 NA 4.01E-06 mr1798 Ind_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
vg0403658880 4.12E-06 2.87E-08 mr1037_2 Ind_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
vg0403658880 NA 3.47E-06 mr1558_2 Ind_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
vg0403658880 4.71E-08 NA mr1798_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
vg0403658880 4.81E-10 4.26E-13 mr1798_2 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