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Detailed information for vg0225225682:

Variant ID: vg0225225682 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 25225682
Reference Allele: AAlternative Allele: C,T
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAGTTTCATATTATAAGACTTTTTAACATTGCTCACATTCATATAGATGTTAATAAATTTAGACACAAATTCATTAGTATCTATATAAATGTAAGTAATG[A/C,T]
TAAAAAGTTTTATAATATGAAACCGAGGGGTAGCTCCGTAGTGGCCGGAGCTGGCCTCAGTTCAAATCACCGGCCGGTTGGTCCGTTGGTCCATGATTCG

Reverse complement sequence

CGAATCATGGACCAACGGACCAACCGGCCGGTGATTTGAACTGAGGCCAGCTCCGGCCACTACGGAGCTACCCCTCGGTTTCATATTATAAAACTTTTTA[T/G,A]
CATTACTTACATTTATATAGATACTAATGAATTTGTGTCTAAATTTATTAACATCTATATGAATGTGAGCAATGTTAAAAAGTCTTATAATATGAAACTA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 86.60% 12.10% 0.00% 0.00% T: 1.31%
All Indica  2759 98.90% 1.00% 0.00% 0.00% T: 0.11%
All Japonica  1512 64.70% 35.20% 0.00% 0.00% T: 0.07%
Aus  269 80.70% 0.70% 0.00% 0.00% T: 18.59%
Indica I  595 99.20% 0.70% 0.00% 0.00% T: 0.17%
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 97.20% 2.50% 0.00% 0.00% T: 0.25%
Temperate Japonica  767 42.10% 57.90% 0.00% 0.00% NA
Tropical Japonica  504 94.20% 5.60% 0.00% 0.00% T: 0.20%
Japonica Intermediate  241 75.10% 24.90% 0.00% 0.00% NA
VI/Aromatic  96 93.80% 1.00% 0.00% 0.00% T: 5.21%
Intermediate  90 84.40% 12.20% 0.00% 0.00% T: 3.33%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0225225682 A -> T LOC_Os02g41980.1 upstream_gene_variant ; 3521.0bp to feature; MODIFIER silent_mutation Average:80.715; most accessible tissue: Minghui63 panicle, score: 99.081 N N N N
vg0225225682 A -> T LOC_Os02g41970.1 downstream_gene_variant ; 2674.0bp to feature; MODIFIER silent_mutation Average:80.715; most accessible tissue: Minghui63 panicle, score: 99.081 N N N N
vg0225225682 A -> T LOC_Os02g41970-LOC_Os02g41980 intergenic_region ; MODIFIER silent_mutation Average:80.715; most accessible tissue: Minghui63 panicle, score: 99.081 N N N N
vg0225225682 A -> C LOC_Os02g41980.1 upstream_gene_variant ; 3521.0bp to feature; MODIFIER silent_mutation Average:80.715; most accessible tissue: Minghui63 panicle, score: 99.081 N N N N
vg0225225682 A -> C LOC_Os02g41970.1 downstream_gene_variant ; 2674.0bp to feature; MODIFIER silent_mutation Average:80.715; most accessible tissue: Minghui63 panicle, score: 99.081 N N N N
vg0225225682 A -> C LOC_Os02g41970-LOC_Os02g41980 intergenic_region ; MODIFIER silent_mutation Average:80.715; most accessible tissue: Minghui63 panicle, score: 99.081 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)
vg0225225682 A C 0.01 0.0 0.0 0.01 0.01 0.01
vg0225225682 A T -0.02 -0.01 0.0 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0225225682 3.66E-06 NA mr1117 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
vg0225225682 4.69E-06 4.69E-06 mr1193 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
vg0225225682 2.82E-07 NA mr1240 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
vg0225225682 8.15E-06 NA mr1242 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
vg0225225682 NA 3.18E-06 mr1482 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
vg0225225682 NA 4.47E-06 mr1555 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
vg0225225682 NA 1.18E-07 mr1617 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
vg0225225682 NA 1.99E-12 mr1712 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
vg0225225682 3.52E-06 1.35E-10 mr1748 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
vg0225225682 NA 1.56E-06 mr1910 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
vg0225225682 NA 1.16E-07 mr1946 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
vg0225225682 NA 1.35E-06 mr1977 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
vg0225225682 NA 7.11E-07 mr1252_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