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Detailed information for vg0725923094:

Variant ID: vg0725923094 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 25923094
Reference Allele: TAlternative Allele: G,A
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.89, T: 0.10, others allele: 0.00, population size: 105. )

Flanking Sequence (100 bp) in Reference Genome:


GTTACCAAAATTTAGTAGCAAACTAAATATAGCCACTTTTTTGGTAACTTTATCAAAATTTGGTAAGGTTGAAAATATCATCAAAATGAATAGGCCCTTA[T/G,A]
TAATAACACCCATTTGAGTTTGACTCGTTTTGAATTAATTTTGGGATAATTAGCCGTGATATTTGGTTTACGAGAATTGTTTAGGTGCATTCAGGTGTAG

Reverse complement sequence

CTACACCTGAATGCACCTAAACAATTCTCGTAAACCAAATATCACGGCTAATTATCCCAAAATTAATTCAAAACGAGTCAAACTCAAATGGGTGTTATTA[A/C,T]
TAAGGGCCTATTCATTTTGATGATATTTTCAACCTTACCAAATTTTGATAAAGTTACCAAAAAAGTGGCTATATTTAGTTTGCTACTAAATTTTGGTAAC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 58.30% 41.50% 0.19% 0.00% A: 0.04%
All Indica  2759 90.00% 9.70% 0.29% 0.00% NA
All Japonica  1512 0.70% 99.30% 0.00% 0.00% NA
Aus  269 86.20% 13.40% 0.37% 0.00% NA
Indica I  595 92.30% 7.20% 0.50% 0.00% NA
Indica II  465 91.40% 8.60% 0.00% 0.00% NA
Indica III  913 90.70% 9.30% 0.00% 0.00% NA
Indica Intermediate  786 86.50% 12.80% 0.64% 0.00% NA
Temperate Japonica  767 0.10% 99.90% 0.00% 0.00% NA
Tropical Japonica  504 1.60% 98.40% 0.00% 0.00% NA
Japonica Intermediate  241 0.80% 99.20% 0.00% 0.00% NA
VI/Aromatic  96 3.10% 96.90% 0.00% 0.00% NA
Intermediate  90 27.80% 70.00% 0.00% 0.00% A: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0725923094 T -> G LOC_Os07g43290.1 upstream_gene_variant ; 223.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> G LOC_Os07g43300.1 upstream_gene_variant ; 3996.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> G LOC_Os07g43290.2 upstream_gene_variant ; 288.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> G LOC_Os07g43270.1 downstream_gene_variant ; 3706.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> G LOC_Os07g43290-LOC_Os07g43300 intergenic_region ; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> A LOC_Os07g43290.1 upstream_gene_variant ; 223.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> A LOC_Os07g43300.1 upstream_gene_variant ; 3996.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> A LOC_Os07g43290.2 upstream_gene_variant ; 288.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> A LOC_Os07g43270.1 downstream_gene_variant ; 3706.0bp to feature; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 N N N N
vg0725923094 T -> A LOC_Os07g43290-LOC_Os07g43300 intergenic_region ; MODIFIER silent_mutation Average:75.794; most accessible tissue: Zhenshan97 flower, score: 93.944 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)
vg0725923094 T A -0.06 -0.03 -0.02 -0.01 -0.03 -0.04
vg0725923094 T G -0.01 -0.04 -0.03 -0.03 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0725923094 NA 1.48E-25 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
vg0725923094 NA 7.71E-12 mr1386 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
vg0725923094 NA 3.80E-28 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
vg0725923094 NA 1.23E-13 mr1128_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
vg0725923094 NA 6.82E-24 mr1304_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
vg0725923094 NA 2.15E-32 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
vg0725923094 NA 9.36E-08 mr1681_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