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Detailed information for vg1206968626:

Variant ID: vg1206968626 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 6968626
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 227. )

Flanking Sequence (100 bp) in Reference Genome:


CAGAACATCGCGTTCTCATCTCATGCCGTGCCGGAAAAAGTATACTTTGACTCCCTCAACTATCGCCCGAGTATGATTCATGTCATCCAACCACAAAACC[A/G]
GGTATATCGACTTGTTCAACTATCAAAACCGGTGCAAACAATGCCCCTAGCTAGGTGGTTTTGGATGACGCGGCGCATACGTGGCGGTCTTGATCGAATC

Reverse complement sequence

GATTCGATCAAGACCGCCACGTATGCGCCGCGTCATCCAAAACCACCTAGCTAGGGGCATTGTTTGCACCGGTTTTGATAGTTGAACAAGTCGATATACC[T/C]
GGTTTTGTGGTTGGATGACATGAATCATACTCGGGCGATAGTTGAGGGAGTCAAAGTATACTTTTTCCGGCACGGCATGAGATGAGAACGCGATGTTCTG

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 65.10% 9.00% 0.15% 25.77% NA
All Indica  2759 95.30% 1.40% 0.14% 3.19% NA
All Japonica  1512 8.50% 25.10% 0.07% 66.34% NA
Aus  269 71.00% 0.70% 0.37% 27.88% NA
Indica I  595 95.30% 3.40% 0.00% 1.34% NA
Indica II  465 96.10% 1.30% 0.00% 2.58% NA
Indica III  913 96.40% 0.30% 0.00% 3.29% NA
Indica Intermediate  786 93.50% 1.10% 0.51% 4.83% NA
Temperate Japonica  767 12.40% 26.60% 0.13% 60.89% NA
Tropical Japonica  504 5.00% 14.90% 0.00% 80.16% NA
Japonica Intermediate  241 3.70% 41.50% 0.00% 54.77% NA
VI/Aromatic  96 79.20% 0.00% 0.00% 20.83% NA
Intermediate  90 55.60% 7.80% 1.11% 35.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1206968626 A -> DEL N N silent_mutation Average:93.904; most accessible tissue: Minghui63 young leaf, score: 98.644 N N N N
vg1206968626 A -> G LOC_Os12g12640.1 upstream_gene_variant ; 1406.0bp to feature; MODIFIER silent_mutation Average:93.904; most accessible tissue: Minghui63 young leaf, score: 98.644 N N N N
vg1206968626 A -> G LOC_Os12g12650.1 upstream_gene_variant ; 3031.0bp to feature; MODIFIER silent_mutation Average:93.904; most accessible tissue: Minghui63 young leaf, score: 98.644 N N N N
vg1206968626 A -> G LOC_Os12g12640-LOC_Os12g12650 intergenic_region ; MODIFIER silent_mutation Average:93.904; most accessible tissue: Minghui63 young leaf, score: 98.644 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)
vg1206968626 A G 0.01 0.01 0.02 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1206968626 2.06E-06 NA mr1261 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
vg1206968626 NA 7.11E-08 mr1821_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