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Detailed information for vg1124722598:

Variant ID: vg1124722598 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 24722598
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.91, T: 0.07, G: 0.02, others allele: 0.00, population size: 107. )

Flanking Sequence (100 bp) in Reference Genome:


TCTCTCCTCCACCTCACCATTTATGCATATGTGGCATCTAGGGGCTTGTGTTTTAGATGCTTATAGTACTTGCTCTCAATCATTCTACCCGTTGTACGAC[T/C]
AGTATTCTTTGGCCAACTATGTCTTCTAGCAGCATGAGCTACTTCCTCCGTTTCACAATGTAAGTCATTCTAGCATTTCCCATATTCATATTGATGCTAA

Reverse complement sequence

TTAGCATCAATATGAATATGGGAAATGCTAGAATGACTTACATTGTGAAACGGAGGAAGTAGCTCATGCTGCTAGAAGACATAGTTGGCCAAAGAATACT[A/G]
GTCGTACAACGGGTAGAATGATTGAGAGCAAGTACTATAAGCATCTAAAACACAAGCCCCTAGATGCCACATATGCATAAATGGTGAGGTGGAGGAGAGA

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 34.90% 12.30% 0.34% 52.48% NA
All Indica  2759 20.90% 0.50% 0.36% 78.25% NA
All Japonica  1512 45.70% 36.70% 0.20% 17.39% NA
Aus  269 95.90% 0.70% 0.00% 3.35% NA
Indica I  595 30.10% 0.50% 0.00% 69.41% NA
Indica II  465 9.50% 0.90% 0.65% 89.03% NA
Indica III  913 19.60% 0.10% 0.11% 80.18% NA
Indica Intermediate  786 22.30% 0.60% 0.76% 76.34% NA
Temperate Japonica  767 23.70% 67.50% 0.39% 8.34% NA
Tropical Japonica  504 69.80% 1.40% 0.00% 28.77% NA
Japonica Intermediate  241 65.10% 12.40% 0.00% 22.41% NA
VI/Aromatic  96 90.60% 2.10% 0.00% 7.29% NA
Intermediate  90 40.00% 10.00% 3.33% 46.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1124722598 T -> DEL N N silent_mutation Average:38.669; most accessible tissue: Zhenshan97 panicle, score: 85.665 N N N N
vg1124722598 T -> C LOC_Os11g41230.1 upstream_gene_variant ; 1886.0bp to feature; MODIFIER silent_mutation Average:38.669; most accessible tissue: Zhenshan97 panicle, score: 85.665 N N N N
vg1124722598 T -> C LOC_Os11g41240.1 upstream_gene_variant ; 4710.0bp to feature; MODIFIER silent_mutation Average:38.669; most accessible tissue: Zhenshan97 panicle, score: 85.665 N N N N
vg1124722598 T -> C LOC_Os11g41210.1 downstream_gene_variant ; 2694.0bp to feature; MODIFIER silent_mutation Average:38.669; most accessible tissue: Zhenshan97 panicle, score: 85.665 N N N N
vg1124722598 T -> C LOC_Os11g41210-LOC_Os11g41230 intergenic_region ; MODIFIER silent_mutation Average:38.669; most accessible tissue: Zhenshan97 panicle, score: 85.665 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)
vg1124722598 T C -0.04 -0.03 -0.02 -0.04 -0.04 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1124722598 9.11E-06 2.69E-06 mr1238 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
vg1124722598 1.22E-08 1.22E-08 mr1609 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
vg1124722598 NA 8.66E-06 mr1195_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
vg1124722598 2.51E-07 1.63E-06 mr1238_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
vg1124722598 4.80E-06 4.80E-06 mr1484_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
vg1124722598 7.14E-08 7.14E-08 mr1609_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
vg1124722598 3.35E-07 1.52E-06 mr1841_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
vg1124722598 1.76E-07 2.37E-07 mr1900_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
vg1124722598 NA 3.29E-06 mr1959_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