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Detailed information for vg0725636129:

Variant ID: vg0725636129 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 25636129
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.98, A: 0.02, others allele: 0.00, population size: 100. )

Flanking Sequence (100 bp) in Reference Genome:


GTTCGTCACAAGACGGACGAAGACCATAATTAAAAATAAGAAATATTGAAATAATAATAGCACAGACTCATGGTCACCGCTGTCGCGGAAGGCCAGACAC[A/G]
GCTGCTACCTACGATGCTACGGTCGTCGATTGGTCTGATGTTGCTCGCTGGTCAATCGTGGTGCTGAGCGACCCCATAGATCTACCCATATCTTCAGAGT

Reverse complement sequence

ACTCTGAAGATATGGGTAGATCTATGGGGTCGCTCAGCACCACGATTGACCAGCGAGCAACATCAGACCAATCGACGACCGTAGCATCGTAGGTAGCAGC[T/C]
GTGTCTGGCCTTCCGCGACAGCGGTGACCATGAGTCTGTGCTATTATTATTTCAATATTTCTTATTTTTAATTATGGTCTTCGTCCGTCTTGTGACGAAC

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 66.60% 33.10% 0.21% 0.04% NA
All Indica  2759 97.50% 2.30% 0.18% 0.04% NA
All Japonica  1512 4.20% 95.60% 0.13% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 99.00% 0.80% 0.17% 0.00% NA
Indica II  465 92.70% 7.10% 0.22% 0.00% NA
Indica III  913 99.70% 0.20% 0.11% 0.00% NA
Indica Intermediate  786 96.60% 3.10% 0.25% 0.13% NA
Temperate Japonica  767 6.90% 92.80% 0.26% 0.00% NA
Tropical Japonica  504 0.20% 99.80% 0.00% 0.00% NA
Japonica Intermediate  241 4.10% 95.90% 0.00% 0.00% NA
VI/Aromatic  96 84.40% 15.60% 0.00% 0.00% NA
Intermediate  90 52.20% 43.30% 3.33% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0725636129 A -> DEL N N silent_mutation Average:83.429; most accessible tissue: Minghui63 panicle, score: 91.41 N N N N
vg0725636129 A -> G LOC_Os07g42800.1 upstream_gene_variant ; 574.0bp to feature; MODIFIER silent_mutation Average:83.429; most accessible tissue: Minghui63 panicle, score: 91.41 N N N N
vg0725636129 A -> G LOC_Os07g42810.1 upstream_gene_variant ; 4825.0bp to feature; MODIFIER silent_mutation Average:83.429; most accessible tissue: Minghui63 panicle, score: 91.41 N N N N
vg0725636129 A -> G LOC_Os07g42810.2 upstream_gene_variant ; 4718.0bp to feature; MODIFIER silent_mutation Average:83.429; most accessible tissue: Minghui63 panicle, score: 91.41 N N N N
vg0725636129 A -> G LOC_Os07g42790.1 downstream_gene_variant ; 1563.0bp to feature; MODIFIER silent_mutation Average:83.429; most accessible tissue: Minghui63 panicle, score: 91.41 N N N N
vg0725636129 A -> G LOC_Os07g42790-LOC_Os07g42800 intergenic_region ; MODIFIER silent_mutation Average:83.429; most accessible tissue: Minghui63 panicle, score: 91.41 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)
vg0725636129 A G -0.02 -0.02 -0.03 -0.02 -0.03 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0725636129 NA 5.56E-23 mr1383 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
vg0725636129 NA 1.22E-21 mr1817 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
vg0725636129 NA 1.11E-09 mr1905 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
vg0725636129 NA 1.70E-35 mr1932 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
vg0725636129 NA 1.90E-18 mr1383_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
vg0725636129 NA 1.27E-21 mr1698_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
vg0725636129 NA 6.74E-18 mr1730_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
vg0725636129 NA 1.27E-20 mr1817_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
vg0725636129 5.69E-07 1.11E-07 mr1842_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
vg0725636129 NA 4.21E-15 mr1866_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