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Detailed information for vg1202888107:

Variant ID: vg1202888107 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 2888107
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.84, A: 0.16, others allele: 0.00, population size: 103. )

Flanking Sequence (100 bp) in Reference Genome:


CGACGGTGCCAGCGGCCTCGTCGTCACCGAAGCTGGAGGCCCACTCCTCCTCCTCCTCATCCTCCGCCGAGAGGTGCTTCTCGTCGTCGGAGTTGTAGTC[A/G]
TGGGCGCGCTTGCGAAGTAGCTTGAAGATCCGCGACGGCGACAACCTTGCGGCCGCTGGTGATGGGAAAGAGAGAGAGAGGGAGAGAGAGAAGCGAGCGG

Reverse complement sequence

CCGCTCGCTTCTCTCTCTCCCTCTCTCTCTCTTTCCCATCACCAGCGGCCGCAAGGTTGTCGCCGTCGCGGATCTTCAAGCTACTTCGCAAGCGCGCCCA[T/C]
GACTACAACTCCGACGACGAGAAGCACCTCTCGGCGGAGGATGAGGAGGAGGAGGAGTGGGCCTCCAGCTTCGGTGACGACGAGGCCGCTGGCACCGTCG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 73.70% 23.00% 1.50% 1.78% NA
All Indica  2759 66.00% 28.60% 2.36% 3.01% NA
All Japonica  1512 96.70% 3.20% 0.07% 0.07% NA
Aus  269 10.00% 89.20% 0.74% 0.00% NA
Indica I  595 90.10% 9.10% 0.84% 0.00% NA
Indica II  465 38.90% 52.90% 4.73% 3.44% NA
Indica III  913 65.50% 27.40% 2.30% 4.82% NA
Indica Intermediate  786 64.50% 30.40% 2.16% 2.93% NA
Temperate Japonica  767 99.20% 0.70% 0.00% 0.13% NA
Tropical Japonica  504 98.20% 1.60% 0.20% 0.00% NA
Japonica Intermediate  241 85.50% 14.50% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 84.40% 12.20% 3.33% 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
vg1202888107 A -> DEL N N silent_mutation Average:88.463; most accessible tissue: Zhenshan97 panicle, score: 96.043 N N N N
vg1202888107 A -> G LOC_Os12g06140.1 downstream_gene_variant ; 1138.0bp to feature; MODIFIER silent_mutation Average:88.463; most accessible tissue: Zhenshan97 panicle, score: 96.043 N N N N
vg1202888107 A -> G LOC_Os12g06140-LOC_Os12g06150 intergenic_region ; MODIFIER silent_mutation Average:88.463; most accessible tissue: Zhenshan97 panicle, score: 96.043 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)
vg1202888107 A G -0.01 -0.01 -0.01 -0.01 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1202888107 NA 8.21E-06 mr1188 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
vg1202888107 NA 5.68E-06 mr1231 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
vg1202888107 NA 3.38E-10 mr1232 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
vg1202888107 NA 4.81E-19 mr1557 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
vg1202888107 NA 1.13E-07 mr1557 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
vg1202888107 NA 2.02E-10 mr1565 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
vg1202888107 NA 3.20E-10 mr1565 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
vg1202888107 NA 2.27E-08 mr1659 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
vg1202888107 NA 4.49E-07 mr1188_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
vg1202888107 NA 4.01E-08 mr1438_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
vg1202888107 NA 9.56E-06 mr1539_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
vg1202888107 NA 1.52E-16 mr1557_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
vg1202888107 NA 1.14E-07 mr1557_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
vg1202888107 NA 3.79E-09 mr1565_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