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Detailed information for vg0514650559:

Variant ID: vg0514650559 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 14650559
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACATTGTAACCCCTCGTGAAATATGTGAAAGATTGACCGTAACCCCGTACACCCTTCATAAGAAAAAAAAATCTAGTATTAGATATTGAATATGCTAGTA[C/T]
TATAAATTTAATTAAAAAACATCTATATTTGTACTATTAGGATATATCCACGTTTAATACTAAGGAGGTGTTTAGATGGGGCTAAAACTTTTTAGTACAT

Reverse complement sequence

ATGTACTAAAAAGTTTTAGCCCCATCTAAACACCTCCTTAGTATTAAACGTGGATATATCCTAATAGTACAAATATAGATGTTTTTTAATTAAATTTATA[G/A]
TACTAGCATATTCAATATCTAATACTAGATTTTTTTTTCTTATGAAGGGTGTACGGGGTTACGGTCAATCTTTCACATATTTCACGAGGGGTTACAATGT

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 95.10% 2.20% 2.71% 0.00% NA
All Indica  2759 91.60% 3.80% 4.60% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 90.40% 0.00% 9.58% 0.00% NA
Indica II  465 74.20% 20.20% 5.59% 0.00% NA
Indica III  913 99.80% 0.10% 0.11% 0.00% NA
Indica Intermediate  786 93.40% 1.10% 5.47% 0.00% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 98.90% 0.00% 1.11% 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
vg0514650559 C -> T LOC_Os05g25240.1 downstream_gene_variant ; 2561.0bp to feature; MODIFIER silent_mutation Average:79.493; most accessible tissue: Minghui63 panicle, score: 89.702 N N N N
vg0514650559 C -> T LOC_Os05g25240-LOC_Os05g25250 intergenic_region ; MODIFIER silent_mutation Average:79.493; most accessible tissue: Minghui63 panicle, score: 89.702 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)
vg0514650559 C T 0.0 0.0 -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
vg0514650559 9.65E-10 1.28E-35 mr1039 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
vg0514650559 2.06E-06 5.05E-21 mr1039 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
vg0514650559 NA 1.95E-08 mr1133 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
vg0514650559 2.19E-11 NA mr1632 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
vg0514650559 2.33E-09 7.10E-13 mr1632 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
vg0514650559 NA 5.41E-07 mr1667 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
vg0514650559 1.89E-11 2.51E-38 mr1039_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
vg0514650559 2.33E-07 1.92E-22 mr1039_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
vg0514650559 NA 4.48E-06 mr1133_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
vg0514650559 NA 5.51E-06 mr1428_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
vg0514650559 2.14E-10 NA mr1632_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
vg0514650559 2.57E-08 3.54E-17 mr1632_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