Search for Variation information by Variation ID:

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

Detailed information for vg0122207649:

Variant ID: vg0122207649 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 22207649
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.97, T: 0.03, others allele: 0.00, population size: 89. )

Flanking Sequence (100 bp) in Reference Genome:


TAACCCGCGTGGGCTCGGTGAGGAGGTGGATGGCGCGGTGGAGACTGGCGGCGCCAGGTGAAGGTCACGGCGTCGATGCGGCAGCGGGGAGGGCGGCGAC[C/T]
GGTCTCAGTGTCGATGCAGCGGTAGGGAGGGCGGTGGCCGGGCTCGCGGACGGCGTCTTGGGGCTCATGTACGGTGGGACACGGGCTCACGGATGGAGTC

Reverse complement sequence

GACTCCATCCGTGAGCCCGTGTCCCACCGTACATGAGCCCCAAGACGCCGTCCGCGAGCCCGGCCACCGCCCTCCCTACCGCTGCATCGACACTGAGACC[G/A]
GTCGCCGCCCTCCCCGCTGCCGCATCGACGCCGTGACCTTCACCTGGCGCCGCCAGTCTCCACCGCGCCATCCACCTCCTCACCGAGCCCACGCGGGTTA

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 87.60% 11.60% 0.06% 0.76% NA
All Indica  2759 85.40% 14.50% 0.11% 0.00% NA
All Japonica  1512 97.50% 0.10% 0.00% 2.38% NA
Aus  269 52.40% 47.60% 0.00% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 73.30% 26.50% 0.22% 0.00% NA
Indica III  913 83.60% 16.40% 0.00% 0.00% NA
Indica Intermediate  786 83.80% 15.90% 0.25% 0.00% NA
Temperate Japonica  767 96.60% 0.10% 0.00% 3.26% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 95.00% 0.40% 0.00% 4.56% NA
VI/Aromatic  96 93.80% 6.20% 0.00% 0.00% NA
Intermediate  90 86.70% 13.30% 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
vg0122207649 C -> T LOC_Os01g39420.1 downstream_gene_variant ; 3170.0bp to feature; MODIFIER silent_mutation Average:66.727; most accessible tissue: Zhenshan97 young leaf, score: 77.736 N N N N
vg0122207649 C -> T LOC_Os01g39399.1 intron_variant ; MODIFIER silent_mutation Average:66.727; most accessible tissue: Zhenshan97 young leaf, score: 77.736 N N N N
vg0122207649 C -> DEL N N silent_mutation Average:66.727; most accessible tissue: Zhenshan97 young leaf, score: 77.736 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)
vg0122207649 C T 0.05 0.0 0.0 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0122207649 NA 4.97E-06 mr1189 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
vg0122207649 NA 5.47E-07 mr1193 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
vg0122207649 NA 6.60E-08 mr1291 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
vg0122207649 NA 7.53E-11 mr1471 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
vg0122207649 NA 6.15E-06 mr1625 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
vg0122207649 NA 9.70E-08 mr1684 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
vg0122207649 NA 1.33E-09 mr1722 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
vg0122207649 NA 6.76E-06 mr1725 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
vg0122207649 6.09E-06 2.12E-11 mr1815 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
vg0122207649 NA 8.07E-07 mr1892 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