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Detailed information for vg0424828213:

Variant ID: vg0424828213 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 24828213
Reference Allele: CAlternative Allele: T,A
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.94, T: 0.06, others allele: 0.00, population size: 53. )

Flanking Sequence (100 bp) in Reference Genome:


AAATAAAAAGACAAGTCACGCATAAAATATTAATCATGTTTTATCATCTAACAACAATGAAAATATAAATTATAAAAAAAATTTATATAAGACGGACAGT[C/T,A]
AAAGTTGGACACGGAAACTCAGGGTTTGCTTTTGTTTTTTTTTGGAACCGAGGGAGTAGTCCTCTAGTCCATATGGGAGTGACCGGCCACTCTCTGGACG

Reverse complement sequence

CGTCCAGAGAGTGGCCGGTCACTCCCATATGGACTAGAGGACTACTCCCTCGGTTCCAAAAAAAAACAAAAGCAAACCCTGAGTTTCCGTGTCCAACTTT[G/A,T]
ACTGTCCGTCTTATATAAATTTTTTTTATAATTTATATTTTCATTGTTGTTAGATGATAAAACATGATTAATATTTTATGCGTGACTTGTCTTTTTATTT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 40.40% 27.80% 17.56% 14.26% A: 0.04%
All Indica  2759 4.40% 44.50% 27.47% 23.63% NA
All Japonica  1512 99.10% 0.30% 0.26% 0.20% A: 0.13%
Aus  269 53.20% 22.70% 20.45% 3.72% NA
Indica I  595 5.40% 42.50% 38.15% 13.95% NA
Indica II  465 3.90% 43.20% 27.31% 25.59% NA
Indica III  913 1.80% 47.20% 21.91% 29.13% NA
Indica Intermediate  786 7.00% 43.60% 25.95% 23.41% NA
Temperate Japonica  767 99.60% 0.00% 0.13% 0.13% A: 0.13%
Tropical Japonica  504 98.40% 1.00% 0.20% 0.40% NA
Japonica Intermediate  241 98.80% 0.00% 0.83% 0.00% A: 0.41%
VI/Aromatic  96 97.90% 0.00% 2.08% 0.00% NA
Intermediate  90 57.80% 20.00% 12.22% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0424828213 C -> DEL N N silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> A LOC_Os04g41880.1 upstream_gene_variant ; 4920.0bp to feature; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> A LOC_Os04g41890.1 upstream_gene_variant ; 590.0bp to feature; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> A LOC_Os04g41900.1 downstream_gene_variant ; 2044.0bp to feature; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> A LOC_Os04g41890-LOC_Os04g41900 intergenic_region ; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> T LOC_Os04g41880.1 upstream_gene_variant ; 4920.0bp to feature; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> T LOC_Os04g41890.1 upstream_gene_variant ; 590.0bp to feature; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> T LOC_Os04g41900.1 downstream_gene_variant ; 2044.0bp to feature; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 N N N N
vg0424828213 C -> T LOC_Os04g41890-LOC_Os04g41900 intergenic_region ; MODIFIER silent_mutation Average:93.47; most accessible tissue: Minghui63 root, score: 98.408 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)
vg0424828213 C A -0.02 0.0 0.04 0.02 0.05 0.07
vg0424828213 C T -0.01 0.0 0.03 0.02 0.04 0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0424828213 NA 1.14E-09 mr1379 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
vg0424828213 NA 8.65E-41 mr1509 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
vg0424828213 NA 1.52E-19 mr1580 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
vg0424828213 NA 4.49E-18 mr1825 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
vg0424828213 3.40E-06 3.40E-06 mr1192_2 Ind_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
vg0424828213 NA 8.19E-06 mr1245_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
vg0424828213 6.25E-06 6.25E-06 mr1311_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
vg0424828213 NA 2.19E-06 mr1329_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
vg0424828213 NA 6.47E-08 mr1335_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
vg0424828213 NA 2.38E-06 mr1373_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
vg0424828213 NA 1.29E-06 mr1418_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
vg0424828213 NA 8.67E-07 mr1488_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
vg0424828213 NA 1.08E-09 mr1506_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
vg0424828213 NA 9.01E-07 mr1524_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
vg0424828213 NA 1.46E-15 mr1578_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
vg0424828213 NA 4.14E-14 mr1579_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
vg0424828213 NA 2.03E-29 mr1580_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
vg0424828213 NA 2.70E-07 mr1683_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
vg0424828213 NA 2.21E-08 mr1690_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