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Detailed information for vg0420064379:

Variant ID: vg0420064379 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 20064379
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACATGTGGGACCACGCTTTTTTTTCCCGAGATGTAATTGCCACGTAAGCGCCACGTCAATACCATGTGGGACAAAGACCTAGTCAAACAAGCCACGTCAG[C/T]
CAAAACTGCCTTCAAAACCGCCGAGAAACCTCGTTTACCCGGTTTTCGTAAGTTGAGGGATAAGTCGTACCCGGTTTTGCGGCCAAGGGACGAAAATCGG

Reverse complement sequence

CCGATTTTCGTCCCTTGGCCGCAAAACCGGGTACGACTTATCCCTCAACTTACGAAAACCGGGTAAACGAGGTTTCTCGGCGGTTTTGAAGGCAGTTTTG[G/A]
CTGACGTGGCTTGTTTGACTAGGTCTTTGTCCCACATGGTATTGACGTGGCGCTTACGTGGCAATTACATCTCGGGAAAAAAAAGCGTGGTCCCACATGT

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 91.20% 8.20% 0.55% 0.00% NA
All Indica  2759 96.80% 3.00% 0.18% 0.00% NA
All Japonica  1512 86.80% 12.40% 0.79% 0.00% NA
Aus  269 68.40% 29.00% 2.60% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 92.90% 6.70% 0.43% 0.00% NA
Indica III  913 97.90% 2.00% 0.11% 0.00% NA
Indica Intermediate  786 95.40% 4.30% 0.25% 0.00% NA
Temperate Japonica  767 99.60% 0.30% 0.13% 0.00% NA
Tropical Japonica  504 63.70% 34.30% 1.98% 0.00% NA
Japonica Intermediate  241 94.60% 5.00% 0.41% 0.00% NA
VI/Aromatic  96 69.80% 30.20% 0.00% 0.00% NA
Intermediate  90 84.40% 13.30% 2.22% 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
vg0420064379 C -> T LOC_Os04g33140.1 upstream_gene_variant ; 152.0bp to feature; MODIFIER silent_mutation Average:97.15; most accessible tissue: Zhenshan97 panicle, score: 99.918 N N N N
vg0420064379 C -> T LOC_Os04g33150.1 downstream_gene_variant ; 814.0bp to feature; MODIFIER silent_mutation Average:97.15; most accessible tissue: Zhenshan97 panicle, score: 99.918 N N N N
vg0420064379 C -> T LOC_Os04g33160.1 downstream_gene_variant ; 3435.0bp to feature; MODIFIER silent_mutation Average:97.15; most accessible tissue: Zhenshan97 panicle, score: 99.918 N N N N
vg0420064379 C -> T LOC_Os04g33140-LOC_Os04g33150 intergenic_region ; MODIFIER silent_mutation Average:97.15; most accessible tissue: Zhenshan97 panicle, score: 99.918 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)
vg0420064379 C T 0.01 0.01 0.01 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0420064379 NA 7.86E-06 mr1082 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
vg0420064379 NA 1.17E-07 mr1083 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
vg0420064379 NA 1.66E-06 mr1226 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
vg0420064379 NA 4.41E-07 mr1925 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
vg0420064379 1.06E-08 1.06E-08 mr1076_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
vg0420064379 NA 1.67E-09 mr1082_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
vg0420064379 1.66E-06 3.42E-11 mr1083_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
vg0420064379 NA 2.52E-06 mr1104_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
vg0420064379 NA 7.75E-06 mr1107_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
vg0420064379 5.53E-06 5.53E-06 mr1145_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
vg0420064379 4.35E-06 NA mr1226_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
vg0420064379 NA 3.16E-08 mr1226_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
vg0420064379 NA 5.58E-07 mr1408_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
vg0420064379 1.76E-06 3.57E-09 mr1408_2 Jap_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
vg0420064379 NA 3.01E-07 mr1498_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