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Search for Variation information by Variation ID:

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

Detailed information for vg0123534663:

Variant ID: vg0123534663 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 23534663
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, T: 0.02, others allele: 0.00, population size: 84. )

Flanking Sequence (100 bp) in Reference Genome:


CAACTACTCTCCCGCTGATAGGGGGAACGGGGACGAGGAGGGCAACGAGGACAGGGGCTGGGTCCCGCCGCACGAGCTCCACCCCTGCATGAGCACGTCG[C/T]
TGCGTCCTTCGTGAGCGAGGGTAGCAGCAGCACACCCAAGGGAGGTTGGGACGAGGAGGGATGCATGAGCAGGGGATGGGTTTCGTCGTACAAGCTCCTT

Reverse complement sequence

AAGGAGCTTGTACGACGAAACCCATCCCCTGCTCATGCATCCCTCCTCGTCCCAACCTCCCTTGGGTGTGCTGCTGCTACCCTCGCTCACGAAGGACGCA[G/A]
CGACGTGCTCATGCAGGGGTGGAGCTCGTGCGGCGGGACCCAGCCCCTGTCCTCGTTGCCCTCCTCGTCCCCGTTCCCCCTATCAGCGGGAGAGTAGTTG

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 70.70% 29.10% 0.23% 0.00% NA
All Indica  2759 60.70% 39.20% 0.11% 0.00% NA
All Japonica  1512 98.60% 1.20% 0.20% 0.00% NA
Aus  269 8.20% 91.80% 0.00% 0.00% NA
Indica I  595 93.80% 6.20% 0.00% 0.00% NA
Indica II  465 63.70% 36.10% 0.22% 0.00% NA
Indica III  913 40.50% 59.50% 0.00% 0.00% NA
Indica Intermediate  786 57.40% 42.40% 0.25% 0.00% NA
Temperate Japonica  767 99.60% 0.30% 0.13% 0.00% NA
Tropical Japonica  504 98.40% 1.60% 0.00% 0.00% NA
Japonica Intermediate  241 95.90% 3.30% 0.83% 0.00% NA
VI/Aromatic  96 88.50% 9.40% 2.08% 0.00% NA
Intermediate  90 73.30% 23.30% 3.33% 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
vg0123534663 C -> T LOC_Os01g41565.1 upstream_gene_variant ; 1932.0bp to feature; MODIFIER silent_mutation Average:82.33; most accessible tissue: Zhenshan97 panicle, score: 92.133 N N N N
vg0123534663 C -> T LOC_Os01g41565-LOC_Os01g41580 intergenic_region ; MODIFIER silent_mutation Average:82.33; most accessible tissue: Zhenshan97 panicle, score: 92.133 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)
vg0123534663 C T -0.02 -0.02 -0.02 -0.01 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0123534663 NA 7.43E-06 mr1346 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
vg0123534663 NA 6.11E-08 mr1561 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
vg0123534663 NA 4.15E-09 mr1587 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
vg0123534663 NA 3.27E-07 mr1908 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
vg0123534663 2.74E-06 2.73E-06 mr1996 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
vg0123534663 NA 5.09E-07 mr1380_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
vg0123534663 NA 4.26E-06 mr1522_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
vg0123534663 NA 9.32E-08 mr1561_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
vg0123534663 NA 4.17E-07 mr1908_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
vg0123534663 NA 4.18E-06 mr1996_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