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Detailed information for vg0506943490:

Variant ID: vg0506943490 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 6943490
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAGCGCCTCGCCGTTGCCGGCGAGGTACTCCAGGTAGGACCTGTCCTCCGTCGCCTCGAACAGCCACGCCGCCGCCCAGAGCAGCTCGTCCTGCAGCAAG[A/G]
TCAGGTCATGTCAGCAAGGTGTTCGTCCGAATCCTACGGCGCCGCCGCCACGCCACTTACCCCGTATCCGCTGAAGGAGCCGTAGTAGTTTCGCGCCACC

Reverse complement sequence

GGTGGCGCGAAACTACTACGGCTCCTTCAGCGGATACGGGGTAAGTGGCGTGGCGGCGGCGCCGTAGGATTCGGACGAACACCTTGCTGACATGACCTGA[T/C]
CTTGCTGCAGGACGAGCTGCTCTGGGCGGCGGCGTGGCTGTTCGAGGCGACGGAGGACAGGTCCTACCTGGAGTACCTCGCCGGCAACGGCGAGGCGCTG

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 57.30% 42.30% 0.40% 0.00% NA
All Indica  2759 87.30% 12.00% 0.65% 0.00% NA
All Japonica  1512 4.70% 95.30% 0.00% 0.00% NA
Aus  269 70.60% 29.40% 0.00% 0.00% NA
Indica I  595 94.30% 4.00% 1.68% 0.00% NA
Indica II  465 79.40% 20.20% 0.43% 0.00% NA
Indica III  913 88.50% 11.50% 0.00% 0.00% NA
Indica Intermediate  786 85.40% 13.90% 0.76% 0.00% NA
Temperate Japonica  767 1.60% 98.40% 0.00% 0.00% NA
Tropical Japonica  504 5.60% 94.40% 0.00% 0.00% NA
Japonica Intermediate  241 12.90% 87.10% 0.00% 0.00% NA
VI/Aromatic  96 1.00% 99.00% 0.00% 0.00% NA
Intermediate  90 42.20% 56.70% 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
vg0506943490 A -> G LOC_Os05g12140.1 upstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:90.237; most accessible tissue: Zhenshan97 panicle, score: 96.924 N N N N
vg0506943490 A -> G LOC_Os05g12140.2 upstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:90.237; most accessible tissue: Zhenshan97 panicle, score: 96.924 N N N N
vg0506943490 A -> G LOC_Os05g12150.1 intron_variant ; MODIFIER silent_mutation Average:90.237; most accessible tissue: Zhenshan97 panicle, score: 96.924 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)
vg0506943490 A G 0.03 0.02 0.0 0.02 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0506943490 3.27E-11 3.38E-41 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
vg0506943490 9.21E-08 3.36E-10 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
vg0506943490 1.70E-07 2.26E-13 mr1514 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
vg0506943490 4.36E-06 5.25E-07 mr1514 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
vg0506943490 NA 1.50E-06 mr1593 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
vg0506943490 5.03E-11 1.51E-43 mr1632 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
vg0506943490 3.14E-08 2.52E-13 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
vg0506943490 3.28E-10 4.20E-50 mr1873 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
vg0506943490 5.16E-06 1.19E-10 mr1873 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
vg0506943490 NA 1.17E-11 mr1904 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
vg0506943490 NA 6.29E-12 mr1940 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
vg0506943490 2.04E-13 1.77E-42 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
vg0506943490 9.63E-09 2.07E-09 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
vg0506943490 2.14E-09 1.80E-19 mr1514_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
vg0506943490 NA 8.27E-07 mr1514_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
vg0506943490 9.51E-12 6.04E-53 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
vg0506943490 5.68E-07 3.63E-12 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
vg0506943490 9.32E-08 6.43E-40 mr1873_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
vg0506943490 NA 3.68E-07 mr1873_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