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Detailed information for vg0500777407:

Variant ID: vg0500777407 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 777407
Reference Allele: TAlternative Allele: A
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCCCCCCCCCCCCCCACCACACACACACACACACACGAACAACTCAAAAAAACAATTACAGAATTACCACCAGAACCTGCAGATCAATTCACAGAATTG[T/A]
CAATTTGAATCTCACATAACTGATTTGATGGCAACAACAGCATGAGGGATATATATACACACAAGAAAGTGACCCCAAAAACATGATACACGAACGAGAC

Reverse complement sequence

GTCTCGTTCGTGTATCATGTTTTTGGGGTCACTTTCTTGTGTGTATATATATCCCTCATGCTGTTGTTGCCATCAAATCAGTTATGTGAGATTCAAATTG[A/T]
CAATTCTGTGAATTGATCTGCAGGTTCTGGTGGTAATTCTGTAATTGTTTTTTTGAGTTGTTCGTGTGTGTGTGTGTGTGTGGTGGGGGGGGGGGGGGAA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.70% 6.40% 1.42% 23.49% NA
All Indica  2759 62.70% 0.20% 1.56% 35.59% NA
All Japonica  1512 72.00% 19.00% 1.59% 7.41% NA
Aus  269 98.90% 0.00% 0.00% 1.12% NA
Indica I  595 77.30% 0.00% 1.01% 21.68% NA
Indica II  465 72.30% 0.60% 1.72% 25.38% NA
Indica III  913 39.20% 0.00% 1.86% 58.93% NA
Indica Intermediate  786 73.20% 0.30% 1.53% 25.06% NA
Temperate Japonica  767 82.30% 15.80% 1.96% 0.00% NA
Tropical Japonica  504 49.40% 29.00% 1.19% 20.44% NA
Japonica Intermediate  241 86.70% 8.30% 1.24% 3.73% NA
VI/Aromatic  96 95.80% 2.10% 0.00% 2.08% NA
Intermediate  90 78.90% 8.90% 0.00% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0500777407 T -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500777407 T -> A LOC_Os05g02370.1 upstream_gene_variant ; 3783.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500777407 T -> A LOC_Os05g02370-LOC_Os05g02390 intergenic_region ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0500777407 T A -0.01 -0.04 -0.05 0.0 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0500777407 NA 5.74E-06 mr1020_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
vg0500777407 2.73E-07 NA mr1549_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
vg0500777407 NA 5.58E-07 mr1549_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