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Detailed information for vg1223502712:

Variant ID: vg1223502712 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23502712
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.96, A: 0.04, others allele: 0.00, population size: 81. )

Flanking Sequence (100 bp) in Reference Genome:


AATTAAATTTTAATTATTACAAACTTGACAAATAGATATATTTGATATTTTAAAGCAACATATATATAAAAAGTTTTCGCACGAAACACACCGTTTAGTA[G/A]
TTTGAAAAACGTGCTAATGAAAATCAAGGTAAAATCTTAATCTTCATGAGAAAAGAGCACTAGTGTATACACGTCACTGCTCTCATGCTAGAATAGATAA

Reverse complement sequence

TTATCTATTCTAGCATGAGAGCAGTGACGTGTATACACTAGTGCTCTTTTCTCATGAAGATTAAGATTTTACCTTGATTTTCATTAGCACGTTTTTCAAA[C/T]
TACTAAACGGTGTGTTTCGTGCGAAAACTTTTTATATATATGTTGCTTTAAAATATCAAATATATCTATTTGTCAAGTTTGTAATAATTAAAATTTAATT

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 88.70% 8.60% 0.78% 1.90% NA
All Indica  2759 88.00% 7.50% 1.30% 3.26% NA
All Japonica  1512 89.10% 10.80% 0.07% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 89.40% 10.60% 0.00% 0.00% NA
Indica II  465 81.70% 0.60% 2.58% 15.05% NA
Indica III  913 91.00% 8.20% 0.66% 0.11% NA
Indica Intermediate  786 87.00% 8.30% 2.29% 2.42% NA
Temperate Japonica  767 94.00% 5.90% 0.13% 0.00% NA
Tropical Japonica  504 94.40% 5.60% 0.00% 0.00% NA
Japonica Intermediate  241 62.20% 37.80% 0.00% 0.00% NA
VI/Aromatic  96 69.80% 30.20% 0.00% 0.00% NA
Intermediate  90 91.10% 8.90% 0.00% 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
vg1223502712 G -> DEL N N silent_mutation Average:71.159; most accessible tissue: Callus, score: 87.757 N N N N
vg1223502712 G -> A LOC_Os12g38280.1 upstream_gene_variant ; 1362.0bp to feature; MODIFIER silent_mutation Average:71.159; most accessible tissue: Callus, score: 87.757 N N N N
vg1223502712 G -> A LOC_Os12g38260.1 downstream_gene_variant ; 3470.0bp to feature; MODIFIER silent_mutation Average:71.159; most accessible tissue: Callus, score: 87.757 N N N N
vg1223502712 G -> A LOC_Os12g38270.1 downstream_gene_variant ; 326.0bp to feature; MODIFIER silent_mutation Average:71.159; most accessible tissue: Callus, score: 87.757 N N N N
vg1223502712 G -> A LOC_Os12g38270.2 downstream_gene_variant ; 326.0bp to feature; MODIFIER silent_mutation Average:71.159; most accessible tissue: Callus, score: 87.757 N N N N
vg1223502712 G -> A LOC_Os12g38270-LOC_Os12g38280 intergenic_region ; MODIFIER silent_mutation Average:71.159; most accessible tissue: Callus, score: 87.757 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)
vg1223502712 G A -0.01 0.0 -0.01 -0.02 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1223502712 3.50E-06 6.46E-08 mr1038 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
vg1223502712 NA 9.97E-08 mr1038 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
vg1223502712 NA 2.06E-06 mr1180 Jap_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
vg1223502712 NA 2.93E-06 mr1280 Jap_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
vg1223502712 3.26E-06 6.91E-08 mr1389 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
vg1223502712 NA 7.57E-07 mr1389 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
vg1223502712 NA 6.07E-06 mr1788 Jap_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
vg1223502712 8.20E-07 4.21E-08 mr1038_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
vg1223502712 NA 3.03E-07 mr1038_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
vg1223502712 9.54E-11 1.72E-12 mr1389_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
vg1223502712 5.08E-08 4.71E-10 mr1389_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
vg1223502712 NA 5.48E-06 mr1496_2 Jap_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