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Detailed information for vg0430538279:

Variant ID: vg0430538279 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 30538279
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCACGTACTAAATTTTTTTGGCTGACTAGGATGCCACGTCTGCGAAACCACCCACATATACTGTCATGGGACCTCCTTTGAACAGTTTGCGTGAGTTTAG[G/T]
GGTATACATTTCTGGTTTTGTGGTTAAGGGACCTCAAAAAATCTCGCTGTTAAGTTGAGGGACCTCCGGTGAACTTATTCCTTTATGCAATGTTTGTCTT

Reverse complement sequence

AAGACAAACATTGCATAAAGGAATAAGTTCACCGGAGGTCCCTCAACTTAACAGCGAGATTTTTTGAGGTCCCTTAACCACAAAACCAGAAATGTATACC[C/A]
CTAAACTCACGCAAACTGTTCAAAGGAGGTCCCATGACAGTATATGTGGGTGGTTTCGCAGACGTGGCATCCTAGTCAGCCAAAAAAATTTAGTACGTGG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.10% 24.80% 0.04% 0.00% NA
All Indica  2759 76.90% 23.00% 0.07% 0.00% NA
All Japonica  1512 79.80% 20.20% 0.00% 0.00% NA
Aus  269 19.00% 81.00% 0.00% 0.00% NA
Indica I  595 56.30% 43.40% 0.34% 0.00% NA
Indica II  465 93.10% 6.90% 0.00% 0.00% NA
Indica III  913 78.50% 21.50% 0.00% 0.00% NA
Indica Intermediate  786 81.20% 18.80% 0.00% 0.00% NA
Temperate Japonica  767 94.90% 5.10% 0.00% 0.00% NA
Tropical Japonica  504 69.60% 30.40% 0.00% 0.00% NA
Japonica Intermediate  241 52.70% 47.30% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 84.40% 15.60% 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
vg0430538279 G -> T LOC_Os04g51540.1 upstream_gene_variant ; 1970.0bp to feature; MODIFIER silent_mutation Average:97.677; most accessible tissue: Minghui63 panicle, score: 99.231 N N N N
vg0430538279 G -> T LOC_Os04g51550.1 downstream_gene_variant ; 426.0bp to feature; MODIFIER silent_mutation Average:97.677; most accessible tissue: Minghui63 panicle, score: 99.231 N N N N
vg0430538279 G -> T LOC_Os04g51550-LOC_Os04g51560 intergenic_region ; MODIFIER silent_mutation Average:97.677; most accessible tissue: Minghui63 panicle, score: 99.231 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)
vg0430538279 G T 0.01 0.01 0.01 0.01 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0430538279 NA 1.24E-08 mr1064 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
vg0430538279 NA 1.54E-09 mr1534 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
vg0430538279 1.44E-09 NA mr1745 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
vg0430538279 4.57E-09 2.94E-14 mr1745 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
vg0430538279 NA 6.88E-07 mr1042_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
vg0430538279 2.23E-07 2.88E-12 mr1064_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
vg0430538279 1.28E-11 NA mr1745_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
vg0430538279 4.76E-13 9.29E-24 mr1745_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