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Detailed information for vg0519440425:

Variant ID: vg0519440425 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 19440425
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTGCTCTTGCTGATATGCAAGCGAGTAATACTCTCTCCGTCCCAAAATAAGTACAGTTTTAGCACTATTTATATCCAATATTTGACCGTTCGTCTTATTT[G/A]
AAAAAAGATTATGATTAGTATTTTTATTGTTATTAGATGATAAAACATGAATAGTACTTTATATGTGACTAATTTGTTTAATATTTTCTATAAATTTTTC

Reverse complement sequence

GAAAAATTTATAGAAAATATTAAACAAATTAGTCACATATAAAGTACTATTCATGTTTTATCATCTAATAACAATAAAAATACTAATCATAATCTTTTTT[C/T]
AAATAAGACGAACGGTCAAATATTGGATATAAATAGTGCTAAAACTGTACTTATTTTGGGACGGAGAGAGTATTACTCGCTTGCATATCAGCAAGAGCAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.80% 23.10% 0.80% 7.28% NA
All Indica  2759 51.60% 36.20% 1.09% 11.13% NA
All Japonica  1512 96.40% 2.60% 0.40% 0.60% NA
Aus  269 80.30% 11.20% 0.37% 8.18% NA
Indica I  595 74.30% 18.50% 0.50% 6.72% NA
Indica II  465 44.30% 44.10% 2.37% 9.25% NA
Indica III  913 47.10% 36.60% 0.88% 15.44% NA
Indica Intermediate  786 43.90% 44.50% 1.02% 10.56% NA
Temperate Japonica  767 95.40% 3.10% 0.65% 0.78% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 93.80% 4.60% 0.41% 1.24% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 64.40% 27.80% 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
vg0519440425 G -> DEL N N silent_mutation Average:61.731; most accessible tissue: Callus, score: 90.983 N N N N
vg0519440425 G -> A LOC_Os05g33140.1 downstream_gene_variant ; 3691.0bp to feature; MODIFIER silent_mutation Average:61.731; most accessible tissue: Callus, score: 90.983 N N N N
vg0519440425 G -> A LOC_Os05g33140-LOC_Os05g33150 intergenic_region ; MODIFIER silent_mutation Average:61.731; most accessible tissue: Callus, score: 90.983 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)
vg0519440425 G A 0.08 0.03 0.01 0.06 0.06 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0519440425 NA 4.20E-06 mr1632 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
vg0519440425 NA 1.35E-06 mr1715 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
vg0519440425 NA 4.96E-06 mr1740 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
vg0519440425 NA 9.14E-06 mr1264_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
vg0519440425 NA 2.47E-07 mr1517_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