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Detailed information for vg0207062837:

Variant ID: vg0207062837 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 7062837
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: 119. )

Flanking Sequence (100 bp) in Reference Genome:


CAGACTTGAAATTTGACCAAACCCAACCCCAACCCCAACCCCAACCCCGGTCAATCCAAACCCAACTATAAATACCACCACCTCGCTAGTCTCGCTTCCT[C/T]
CCTCCACCATCACATTCCACATCCCCCTCACCCCTCACCTCACCTCCGGCGTCGACCTCGACCTCGACTCCACTAACCAACCTGACCCAAGCATCCAACT

Reverse complement sequence

AGTTGGATGCTTGGGTCAGGTTGGTTAGTGGAGTCGAGGTCGAGGTCGACGCCGGAGGTGAGGTGAGGGGTGAGGGGGATGTGGAATGTGATGGTGGAGG[G/A]
AGGAAGCGAGACTAGCGAGGTGGTGGTATTTATAGTTGGGTTTGGATTGACCGGGGTTGGGGTTGGGGTTGGGGTTGGGTTTGGTCAAATTTCAAGTCTG

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 65.60% 34.10% 0.32% 0.00% NA
All Indica  2759 75.80% 23.70% 0.47% 0.00% NA
All Japonica  1512 40.50% 59.50% 0.00% 0.00% NA
Aus  269 97.40% 2.20% 0.37% 0.00% NA
Indica I  595 71.80% 27.90% 0.34% 0.00% NA
Indica II  465 86.70% 11.80% 1.51% 0.00% NA
Indica III  913 73.70% 26.20% 0.11% 0.00% NA
Indica Intermediate  786 74.90% 24.70% 0.38% 0.00% NA
Temperate Japonica  767 70.30% 29.70% 0.00% 0.00% NA
Tropical Japonica  504 6.30% 93.70% 0.00% 0.00% NA
Japonica Intermediate  241 17.40% 82.60% 0.00% 0.00% NA
VI/Aromatic  96 67.70% 31.20% 1.04% 0.00% NA
Intermediate  90 73.30% 26.70% 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
vg0207062837 C -> T LOC_Os02g13260.1 5_prime_UTR_variant ; 126.0bp to feature; MODIFIER silent_mutation Average:97.594; most accessible tissue: Minghui63 root, score: 99.115 N N N N
vg0207062837 C -> T LOC_Os02g13250.1 downstream_gene_variant ; 2460.0bp to feature; MODIFIER silent_mutation Average:97.594; most accessible tissue: Minghui63 root, score: 99.115 N N N N
vg0207062837 C -> T LOC_Os02g13270.1 downstream_gene_variant ; 3553.0bp to feature; MODIFIER silent_mutation Average:97.594; most accessible tissue: Minghui63 root, score: 99.115 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)
vg0207062837 C T -0.05 -0.11 -0.06 -0.08 -0.05 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0207062837 NA 2.00E-06 mr1091 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
vg0207062837 NA 1.46E-09 mr1137 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
vg0207062837 NA 2.04E-06 mr1229 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
vg0207062837 NA 2.19E-11 mr1486 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
vg0207062837 NA 1.83E-08 mr1617 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
vg0207062837 NA 9.13E-08 mr1010_2 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
vg0207062837 NA 4.26E-06 mr1063_2 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
vg0207062837 NA 2.71E-07 mr1161_2 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
vg0207062837 NA 3.49E-07 mr1229_2 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
vg0207062837 NA 5.44E-06 mr1865_2 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
vg0207062837 NA 2.26E-07 mr1880_2 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