Search for Variation information by Variation ID:

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

Detailed information for vg0115479612:

Variant ID: vg0115479612 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 15479612
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 84. )

Flanking Sequence (100 bp) in Reference Genome:


CGTAACTTGTAGATTTTGATTCTTATTCTAATTGCCATGACATGATGCCACCAATGTCCACCTGAGCTAAAGTCAGTTCTCACATCTCCTGGTTGGCACC[C/T]
CAATTTGTAAAATCCTGGCTTCGCCAATATGTTCATCATACCCTTACACTATTAGTTTCCGATGGTAGAAAAGGGTCTACGTAGTACTTAGAATCACGGT

Reverse complement sequence

ACCGTGATTCTAAGTACTACGTAGACCCTTTTCTACCATCGGAAACTAATAGTGTAAGGGTATGATGAACATATTGGCGAAGCCAGGATTTTACAAATTG[G/A]
GGTGCCAACCAGGAGATGTGAGAACTGACTTTAGCTCAGGTGGACATTGGTGGCATCATGTCATGGCAATTAGAATAAGAATCAAAATCTACAAGTTACG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.20% 38.80% 0.04% 0.00% NA
All Indica  2759 95.10% 4.80% 0.07% 0.00% NA
All Japonica  1512 2.60% 97.40% 0.00% 0.00% NA
Aus  269 68.00% 32.00% 0.00% 0.00% NA
Indica I  595 99.50% 0.50% 0.00% 0.00% NA
Indica II  465 84.90% 14.80% 0.22% 0.00% NA
Indica III  913 99.10% 0.90% 0.00% 0.00% NA
Indica Intermediate  786 93.30% 6.60% 0.13% 0.00% NA
Temperate Japonica  767 1.00% 99.00% 0.00% 0.00% NA
Tropical Japonica  504 5.40% 94.60% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.90% 0.00% 0.00% NA
VI/Aromatic  96 6.20% 93.80% 0.00% 0.00% NA
Intermediate  90 42.20% 57.80% 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
vg0115479612 C -> T LOC_Os01g27740.1 upstream_gene_variant ; 1290.0bp to feature; MODIFIER silent_mutation Average:82.615; most accessible tissue: Minghui63 root, score: 92.212 N N N N
vg0115479612 C -> T LOC_Os01g27750.1 upstream_gene_variant ; 356.0bp to feature; MODIFIER silent_mutation Average:82.615; most accessible tissue: Minghui63 root, score: 92.212 N N N N
vg0115479612 C -> T LOC_Os01g27740.2 upstream_gene_variant ; 1290.0bp to feature; MODIFIER silent_mutation Average:82.615; most accessible tissue: Minghui63 root, score: 92.212 N N N N
vg0115479612 C -> T LOC_Os01g27740.3 upstream_gene_variant ; 1290.0bp to feature; MODIFIER silent_mutation Average:82.615; most accessible tissue: Minghui63 root, score: 92.212 N N N N
vg0115479612 C -> T LOC_Os01g27740-LOC_Os01g27750 intergenic_region ; MODIFIER silent_mutation Average:82.615; most accessible tissue: Minghui63 root, score: 92.212 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)
vg0115479612 C T 0.0 -0.01 -0.01 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0115479612 NA 4.12E-08 mr1040 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
vg0115479612 NA 7.38E-10 mr1581 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
vg0115479612 NA 4.02E-26 mr1632 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
vg0115479612 NA 5.02E-07 mr1680 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
vg0115479612 NA 6.05E-06 mr1711 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
vg0115479612 NA 5.26E-18 mr1040_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
vg0115479612 NA 3.15E-23 mr1362_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
vg0115479612 NA 1.26E-09 mr1398_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
vg0115479612 NA 2.19E-07 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
vg0115479612 NA 2.17E-20 mr1581_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
vg0115479612 NA 1.14E-16 mr1712_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
vg0115479612 NA 3.03E-13 mr1717_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
vg0115479612 NA 5.83E-14 mr1770_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
vg0115479612 NA 9.09E-20 mr1836_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
vg0115479612 NA 1.68E-09 mr1946_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
vg0115479612 NA 1.68E-09 mr1948_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