Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg1125611024:

Variant ID: vg1125611024 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 25611024
Reference Allele: CAlternative Allele: G,A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 245. )

Flanking Sequence (100 bp) in Reference Genome:


GATGAACAGTCTGTGTTCTCTCTCATCAGTTTTGTTTCTAACTAACACAGGATAACATGTCTCTCGTCCATCTCTAATGACATTGCCACGGCTGCTTCGC[C/G,A]
GTGCCACCCTCTTCCCCCACCCACCCTAATTGGTCGGTGCCATTTCCCCTGCCGCTGACCCCGGGCCATCGTCCTCTCCCATTAGCGGCCGATAGTTCCG

Reverse complement sequence

CGGAACTATCGGCCGCTAATGGGAGAGGACGATGGCCCGGGGTCAGCGGCAGGGGAAATGGCACCGACCAATTAGGGTGGGTGGGGGAAGAGGGTGGCAC[G/C,T]
GCGAAGCAGCCGTGGCAATGTCATTAGAGATGGACGAGAGACATGTTATCCTGTGTTAGTTAGAAACAAAACTGATGAGAGAGAACACAGACTGTTCATC

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 83.10% 8.60% 0.89% 7.36% G: 0.02%
All Indica  2759 75.80% 13.00% 1.05% 10.18% G: 0.04%
All Japonica  1512 94.20% 2.80% 0.00% 2.98% NA
Aus  269 88.50% 0.00% 4.46% 7.06% NA
Indica I  595 93.90% 1.00% 0.00% 5.04% NA
Indica II  465 88.80% 3.70% 0.00% 7.53% NA
Indica III  913 60.00% 20.30% 2.63% 16.98% G: 0.11%
Indica Intermediate  786 72.50% 19.10% 0.64% 7.76% NA
Temperate Japonica  767 98.60% 1.00% 0.00% 0.39% NA
Tropical Japonica  504 86.70% 6.20% 0.00% 7.14% NA
Japonica Intermediate  241 96.30% 1.20% 0.00% 2.49% NA
VI/Aromatic  96 96.90% 0.00% 0.00% 3.12% NA
Intermediate  90 90.00% 8.90% 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
vg1125611024 C -> DEL N N silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> A LOC_Os11g42525.1 upstream_gene_variant ; 761.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> A LOC_Os11g42530.1 upstream_gene_variant ; 2359.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> A LOC_Os11g42540.1 upstream_gene_variant ; 3482.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> A LOC_Os11g42540.2 upstream_gene_variant ; 3482.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> A LOC_Os11g42520.1 downstream_gene_variant ; 2228.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> A LOC_Os11g42520-LOC_Os11g42525 intergenic_region ; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> G LOC_Os11g42525.1 upstream_gene_variant ; 761.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> G LOC_Os11g42530.1 upstream_gene_variant ; 2359.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> G LOC_Os11g42540.1 upstream_gene_variant ; 3482.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> G LOC_Os11g42540.2 upstream_gene_variant ; 3482.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> G LOC_Os11g42520.1 downstream_gene_variant ; 2228.0bp to feature; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 N N N N
vg1125611024 C -> G LOC_Os11g42520-LOC_Os11g42525 intergenic_region ; MODIFIER silent_mutation Average:73.704; most accessible tissue: Minghui63 flag leaf, score: 88.907 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)
vg1125611024 C A 0.02 0.01 0.0 0.02 0.02 0.02
vg1125611024 C G 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1125611024 1.46E-06 NA mr1133 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
vg1125611024 NA 2.11E-10 mr1133 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
vg1125611024 9.80E-07 NA mr1667 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
vg1125611024 NA 2.41E-08 mr1667 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
vg1125611024 3.42E-07 4.06E-16 mr1133_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
vg1125611024 NA 7.40E-11 mr1133_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
vg1125611024 5.75E-06 2.79E-11 mr1667_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
vg1125611024 NA 1.79E-08 mr1667_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