Search for Variation information by Variation ID:

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

Detailed information for vg0138695323:

Variant ID: vg0138695323 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 38695323
Reference Allele: AAlternative Allele: T
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, others allele: 0.00, population size: 291. )

Flanking Sequence (100 bp) in Reference Genome:


ATGGGGCCCTGAGAGGGCGACATGGAAAATGGCTGGGGAAGATCGGGACACTGTATAAAGTTCCTAATATCTTCTGGGAATAAGTTCATCTTAGGTCCCT[A/T]
AACTTGTCGAGAGTCCGATTTTCGTCCTTCAACCGCAAAACCAGATACAACAGGTCCCTCAACTGTCAAAACCAGTGCAGATGAGGTCCCTCAGCGGTTT

Reverse complement sequence

AAACCGCTGAGGGACCTCATCTGCACTGGTTTTGACAGTTGAGGGACCTGTTGTATCTGGTTTTGCGGTTGAAGGACGAAAATCGGACTCTCGACAAGTT[T/A]
AGGGACCTAAGATGAACTTATTCCCAGAAGATATTAGGAACTTTATACAGTGTCCCGATCTTCCCCAGCCATTTTCCATGTCGCCCTCTCAGGGCCCCAT

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.60% 29.90% 0.42% 0.00% NA
All Indica  2759 98.30% 1.70% 0.00% 0.00% NA
All Japonica  1512 16.60% 82.30% 1.12% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.10% 0.90% 0.00% 0.00% NA
Indica III  913 99.60% 0.40% 0.00% 0.00% NA
Indica Intermediate  786 94.90% 5.10% 0.00% 0.00% NA
Temperate Japonica  767 10.00% 89.00% 0.91% 0.00% NA
Tropical Japonica  504 16.10% 83.10% 0.79% 0.00% NA
Japonica Intermediate  241 38.60% 58.90% 2.49% 0.00% NA
VI/Aromatic  96 9.40% 89.60% 1.04% 0.00% NA
Intermediate  90 57.80% 40.00% 2.22% 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
vg0138695323 A -> T LOC_Os01g66610.1 upstream_gene_variant ; 2702.0bp to feature; MODIFIER silent_mutation Average:99.446; most accessible tissue: Minghui63 young leaf, score: 99.804 N N N N
vg0138695323 A -> T LOC_Os01g66630.1 upstream_gene_variant ; 3719.0bp to feature; MODIFIER silent_mutation Average:99.446; most accessible tissue: Minghui63 young leaf, score: 99.804 N N N N
vg0138695323 A -> T LOC_Os01g66620.1 downstream_gene_variant ; 408.0bp to feature; MODIFIER silent_mutation Average:99.446; most accessible tissue: Minghui63 young leaf, score: 99.804 N N N N
vg0138695323 A -> T LOC_Os01g66610-LOC_Os01g66620 intergenic_region ; MODIFIER silent_mutation Average:99.446; most accessible tissue: Minghui63 young leaf, score: 99.804 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)
vg0138695323 A T 0.08 0.1 0.09 0.1 0.05 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0138695323 9.76E-09 3.79E-84 mr1134 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
vg0138695323 NA 2.59E-07 mr1134 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
vg0138695323 1.11E-12 5.86E-91 mr1135 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
vg0138695323 NA 2.41E-08 mr1135 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
vg0138695323 NA 3.20E-23 mr1375 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
vg0138695323 4.61E-07 1.98E-90 mr1504 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
vg0138695323 NA 4.39E-06 mr1504 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
vg0138695323 NA 7.96E-66 mr1538 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
vg0138695323 NA 4.84E-39 mr1670 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
vg0138695323 2.13E-09 4.37E-88 mr1672 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
vg0138695323 NA 2.15E-06 mr1835 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
vg0138695323 1.07E-08 NA mr1134_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
vg0138695323 9.90E-06 5.23E-11 mr1134_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
vg0138695323 2.05E-07 NA mr1504_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
vg0138695323 NA 4.68E-10 mr1504_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
vg0138695323 2.20E-06 NA mr1517_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
vg0138695323 NA 5.38E-06 mr1517_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
vg0138695323 NA 6.48E-38 mr1541_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
vg0138695323 NA 2.15E-46 mr1670_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
vg0138695323 9.77E-13 NA mr1672_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
vg0138695323 NA 6.17E-09 mr1672_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