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Detailed information for vg0419984850:

Variant ID: vg0419984850 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 19984850
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTGTGGTAGATCGACAGGTGGTGGATGGCAGGTGAAAACCCAGCCCGGCCTTGGCCGGACAAGCATCGATGACGTTCGAGCGTCATTCCCCTCCTGAGGG[C/T]
GTTGTCGTGCCGTCTCGCCCCTCAAGGATGGCTGCCGAGCGAAAGCTCAGTTTCGGCTCTCTTTGAAACCTTGACAGATGACGGTGGCGGTGTTCCGTCG

Reverse complement sequence

CGACGGAACACCGCCACCGTCATCTGTCAAGGTTTCAAAGAGAGCCGAAACTGAGCTTTCGCTCGGCAGCCATCCTTGAGGGGCGAGACGGCACGACAAC[G/A]
CCCTCAGGAGGGGAATGACGCTCGAACGTCATCGATGCTTGTCCGGCCAAGGCCGGGCTGGGTTTTCACCTGCCATCCACCACCTGTCGATCTACCACAC

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 85.80% 14.00% 0.19% 0.00% NA
All Indica  2759 86.60% 13.40% 0.04% 0.00% NA
All Japonica  1512 81.90% 17.90% 0.20% 0.00% NA
Aus  269 92.60% 5.60% 1.86% 0.00% NA
Indica I  595 99.30% 0.70% 0.00% 0.00% NA
Indica II  465 88.00% 12.00% 0.00% 0.00% NA
Indica III  913 77.10% 22.80% 0.11% 0.00% NA
Indica Intermediate  786 87.00% 13.00% 0.00% 0.00% NA
Temperate Japonica  767 88.90% 11.10% 0.00% 0.00% NA
Tropical Japonica  504 84.90% 14.90% 0.20% 0.00% NA
Japonica Intermediate  241 53.50% 45.60% 0.83% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 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
vg0419984850 C -> T LOC_Os04g33020.1 downstream_gene_variant ; 206.0bp to feature; MODIFIER silent_mutation Average:76.81; most accessible tissue: Minghui63 flag leaf, score: 88.459 N N N N
vg0419984850 C -> T LOC_Os04g33020-LOC_Os04g33030 intergenic_region ; MODIFIER silent_mutation Average:76.81; most accessible tissue: Minghui63 flag leaf, score: 88.459 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)
vg0419984850 C T -0.01 0.0 -0.01 -0.02 -0.03 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0419984850 NA 9.83E-06 mr1080 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
vg0419984850 5.34E-07 NA mr1071_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
vg0419984850 4.54E-08 1.33E-09 mr1080_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
vg0419984850 3.39E-07 7.62E-09 mr1203_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
vg0419984850 4.33E-07 4.67E-08 mr1619_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