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Detailed information for vg0225240510:

Variant ID: vg0225240510 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 25240510
Reference Allele: TAlternative Allele: A
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.98, A: 0.03, others allele: 0.00, population size: 277. )

Flanking Sequence (100 bp) in Reference Genome:


GTCAAAGTAGAGTAGCAAATTCAGCAATCTATTAATGTGGATGCTGTTCCTGAATTGGTCAAACAGTATCCATGGGAGTCTAACTCAATTTCATGTCTGC[T/A]
ATTTTTTGTCTCATCATTTGTGAGCCACCTAGTTTCAAAAATGCCCCGTTAGATTAGAAGTCCTGTCCATTGATTGCAGATAAATGCTCCTGGTGACCTC

Reverse complement sequence

GAGGTCACCAGGAGCATTTATCTGCAATCAATGGACAGGACTTCTAATCTAACGGGGCATTTTTGAAACTAGGTGGCTCACAAATGATGAGACAAAAAAT[A/T]
GCAGACATGAAATTGAGTTAGACTCCCATGGATACTGTTTGACCAATTCAGGAACAGCATCCACATTAATAGATTGCTGAATTTGCTACTCTACTTTGAC

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 78.30% 21.60% 0.04% 0.00% NA
All Indica  2759 94.80% 5.20% 0.00% 0.00% NA
All Japonica  1512 45.20% 54.70% 0.13% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.50% 1.50% 0.00% 0.00% NA
Indica II  465 97.60% 2.40% 0.00% 0.00% NA
Indica III  913 92.60% 7.40% 0.00% 0.00% NA
Indica Intermediate  786 93.00% 7.00% 0.00% 0.00% NA
Temperate Japonica  767 56.20% 43.70% 0.13% 0.00% NA
Tropical Japonica  504 35.90% 63.90% 0.20% 0.00% NA
Japonica Intermediate  241 29.50% 70.50% 0.00% 0.00% NA
VI/Aromatic  96 68.80% 31.20% 0.00% 0.00% NA
Intermediate  90 74.40% 25.60% 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
vg0225240510 T -> A LOC_Os02g41990.1 downstream_gene_variant ; 4076.0bp to feature; MODIFIER silent_mutation Average:82.131; most accessible tissue: Callus, score: 95.967 N N N N
vg0225240510 T -> A LOC_Os02g42020.1 downstream_gene_variant ; 1901.0bp to feature; MODIFIER silent_mutation Average:82.131; most accessible tissue: Callus, score: 95.967 N N N N
vg0225240510 T -> A LOC_Os02g41990.2 downstream_gene_variant ; 1236.0bp to feature; MODIFIER silent_mutation Average:82.131; most accessible tissue: Callus, score: 95.967 N N N N
vg0225240510 T -> A LOC_Os02g42020.2 downstream_gene_variant ; 1901.0bp to feature; MODIFIER silent_mutation Average:82.131; most accessible tissue: Callus, score: 95.967 N N N N
vg0225240510 T -> A LOC_Os02g42000.1 intron_variant ; MODIFIER silent_mutation Average:82.131; most accessible tissue: Callus, score: 95.967 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)
vg0225240510 T A -0.02 0.02 0.03 0.0 -0.01 -0.08

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0225240510 NA 3.63E-10 mr1128 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
vg0225240510 NA 8.38E-07 mr1215 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
vg0225240510 NA 5.80E-06 mr1236 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
vg0225240510 NA 7.44E-07 mr1374 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
vg0225240510 NA 3.59E-09 mr1442 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
vg0225240510 NA 3.04E-06 mr1445 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
vg0225240510 NA 6.15E-08 mr1506 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
vg0225240510 1.39E-06 1.39E-06 mr1645 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
vg0225240510 1.51E-06 1.51E-06 mr1647 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
vg0225240510 NA 6.18E-11 mr1683 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
vg0225240510 NA 5.39E-06 mr1748 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
vg0225240510 NA 8.55E-07 mr1797 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
vg0225240510 NA 8.55E-07 mr1801 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
vg0225240510 NA 2.44E-07 mr1810 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
vg0225240510 NA 1.83E-11 mr1921 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
vg0225240510 NA 3.90E-07 mr1548_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