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Detailed information for vg1127791472:

Variant ID: vg1127791472 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 27791472
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, others allele: 0.00, population size: 232. )

Flanking Sequence (100 bp) in Reference Genome:


ACACATTACATATAATTCAGTAGTATAGACTTCAGAGGAGCCGGTATCTGTCTTTCTTATCGATCTGCCATGATTCAATGAAATATTGAACCCATGTATT[C/A]
AATACTTGACTAAAAAATTCTGTTTATACTTATGAAGATAACTTTAGTATCAGTATAACAGGCAAATGCACTGATTAACAATTAGTAGCAAACAGAAACA

Reverse complement sequence

TGTTTCTGTTTGCTACTAATTGTTAATCAGTGCATTTGCCTGTTATACTGATACTAAAGTTATCTTCATAAGTATAAACAGAATTTTTTAGTCAAGTATT[G/T]
AATACATGGGTTCAATATTTCATTGAATCATGGCAGATCGATAAGAAAGACAGATACCGGCTCCTCTGAAGTCTATACTACTGAATTATATGTAATGTGT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.00% 1.30% 7.64% 2.14% NA
All Indica  2759 87.60% 1.20% 8.08% 3.19% NA
All Japonica  1512 95.80% 0.50% 3.37% 0.33% NA
Aus  269 75.50% 4.10% 18.22% 2.23% NA
Indica I  595 83.40% 2.00% 13.78% 0.84% NA
Indica II  465 82.60% 1.30% 7.96% 8.17% NA
Indica III  913 94.10% 0.70% 3.94% 1.31% NA
Indica Intermediate  786 86.10% 1.00% 8.65% 4.20% NA
Temperate Japonica  767 95.00% 0.40% 4.17% 0.39% NA
Tropical Japonica  504 98.20% 0.20% 1.59% 0.00% NA
Japonica Intermediate  241 93.40% 1.20% 4.56% 0.83% NA
VI/Aromatic  96 55.20% 8.30% 34.38% 2.08% NA
Intermediate  90 92.20% 2.20% 5.56% 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
vg1127791472 C -> A LOC_Os11g45930.1 upstream_gene_variant ; 2305.0bp to feature; MODIFIER silent_mutation Average:59.471; most accessible tissue: Minghui63 flag leaf, score: 91.758 N N N N
vg1127791472 C -> A LOC_Os11g45924.1 intron_variant ; MODIFIER silent_mutation Average:59.471; most accessible tissue: Minghui63 flag leaf, score: 91.758 N N N N
vg1127791472 C -> DEL N N silent_mutation Average:59.471; most accessible tissue: Minghui63 flag leaf, score: 91.758 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)
vg1127791472 C A 0.0 0.0 0.0 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1127791472 1.99E-06 5.79E-07 mr1285 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
vg1127791472 7.32E-06 6.62E-06 mr1285 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
vg1127791472 NA 8.63E-06 mr1376 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
vg1127791472 NA 8.63E-06 mr1431 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
vg1127791472 NA 5.11E-08 mr1592 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
vg1127791472 NA 8.28E-07 mr1696 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
vg1127791472 NA 5.46E-07 mr1909 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
vg1127791472 2.88E-06 2.06E-08 mr1921 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
vg1127791472 NA 9.13E-08 mr1662_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