Search for Variation information by Variation ID:

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

Detailed information for vg0100854927:

Variant ID: vg0100854927 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 854927
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, C: 0.03, others allele: 0.00, population size: 186. )

Flanking Sequence (100 bp) in Reference Genome:


GAACAGCGCCATATGTAAGTTCCATCCACTGGTGGAATCACCCTCTGCAGTCACTTAGCTATCAAGAGTTCATGGCAAATCTTATCGTGATTCAGCACAT[G/C]
CTGCCTTTCCATGTCACCTCAGTAGATTTGATCTTAGCACAAAATGTATAAGTTCCATTTGGCATTTACAAGTCTTCTGGAATAAGAAAGGAAAAACGAG

Reverse complement sequence

CTCGTTTTTCCTTTCTTATTCCAGAAGACTTGTAAATGCCAAATGGAACTTATACATTTTGTGCTAAGATCAAATCTACTGAGGTGACATGGAAAGGCAG[C/G]
ATGTGCTGAATCACGATAAGATTTGCCATGAACTCTTGATAGCTAAGTGACTGCAGAGGGTGATTCCACCAGTGGATGGAACTTACATATGGCGCTGTTC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.50% 24.00% 0.17% 0.30% NA
All Indica  2759 60.20% 39.20% 0.22% 0.36% NA
All Japonica  1512 97.40% 2.60% 0.07% 0.00% NA
Aus  269 98.90% 0.40% 0.00% 0.74% NA
Indica I  595 68.70% 31.30% 0.00% 0.00% NA
Indica II  465 77.00% 23.00% 0.00% 0.00% NA
Indica III  913 41.90% 57.20% 0.33% 0.55% NA
Indica Intermediate  786 65.10% 33.80% 0.38% 0.64% NA
Temperate Japonica  767 95.60% 4.40% 0.00% 0.00% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.40% 0.41% 0.00% NA
VI/Aromatic  96 93.80% 5.20% 1.04% 0.00% NA
Intermediate  90 88.90% 8.90% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0100854927 G -> DEL N N silent_mutation Average:71.473; most accessible tissue: Minghui63 flag leaf, score: 98.899 N N N N
vg0100854927 G -> C LOC_Os01g02570.1 upstream_gene_variant ; 359.0bp to feature; MODIFIER silent_mutation Average:71.473; most accessible tissue: Minghui63 flag leaf, score: 98.899 N N N N
vg0100854927 G -> C LOC_Os01g02580.1 downstream_gene_variant ; 3030.0bp to feature; MODIFIER silent_mutation Average:71.473; most accessible tissue: Minghui63 flag leaf, score: 98.899 N N N N
vg0100854927 G -> C LOC_Os01g02570-LOC_Os01g02580 intergenic_region ; MODIFIER silent_mutation Average:71.473; most accessible tissue: Minghui63 flag leaf, score: 98.899 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)
vg0100854927 G C -0.01 -0.01 -0.01 -0.01 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0100854927 NA 1.77E-07 mr1060_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
vg0100854927 NA 1.91E-06 mr1060_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
vg0100854927 NA 1.88E-07 mr1296_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
vg0100854927 NA 1.22E-06 mr1296_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
vg0100854927 NA 9.06E-06 mr1331_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
vg0100854927 NA 8.96E-06 mr1355_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
vg0100854927 NA 5.11E-08 mr1358_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
vg0100854927 NA 5.68E-09 mr1568_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
vg0100854927 NA 3.69E-06 mr1568_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
vg0100854927 NA 4.50E-07 mr1830_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
vg0100854927 NA 8.09E-07 mr1882_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
vg0100854927 NA 4.11E-07 mr1882_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
vg0100854927 NA 7.11E-06 mr1899_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
vg0100854927 NA 6.49E-06 mr1910_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