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Detailed information for vg0912105870:

Variant ID: vg0912105870 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 12105870
Reference Allele: TAlternative Allele: A
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGTGGAGACCGGGAGGAGTAATTTGATCCATCCAGCTGAGATCTCTGTCTGAATCAAGATTAATTGTTTTTTCAGTCTGTTGTTTTTTCCCAGACAAACA[T/A]
AGTGAAGATAGAGACACGACGGTCGTCTCGTCTCCCCCCCCCCCCCCCCCAGCTAGCTGCTTGCTGTATTTGGTTAATTTTATAATGGAATGATCAAAAC

Reverse complement sequence

GTTTTGATCATTCCATTATAAAATTAACCAAATACAGCAAGCAGCTAGCTGGGGGGGGGGGGGGGGGAGACGAGACGACCGTCGTGTCTCTATCTTCACT[A/T]
TGTTTGTCTGGGAAAAAACAACAGACTGAAAAAACAATTAATCTTGATTCAGACAGAGATCTCAGCTGGATGGATCAAATTACTCCTCCCGGTCTCCACG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 91.00% 5.60% 2.52% 0.83% NA
All Indica  2759 99.00% 0.40% 0.47% 0.18% NA
All Japonica  1512 77.20% 16.50% 6.22% 0.07% NA
Aus  269 86.20% 0.40% 2.23% 11.15% NA
Indica I  595 98.30% 0.30% 1.34% 0.00% NA
Indica II  465 99.40% 0.40% 0.22% 0.00% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 98.90% 0.00% 0.51% 0.64% NA
Temperate Japonica  767 56.70% 31.30% 11.86% 0.13% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 95.40% 3.30% 1.24% 0.00% NA
VI/Aromatic  96 97.90% 0.00% 0.00% 2.08% NA
Intermediate  90 86.70% 5.60% 6.67% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0912105870 T -> DEL N N silent_mutation Average:66.633; most accessible tissue: Minghui63 root, score: 97.5 N N N N
vg0912105870 T -> A LOC_Os09g20190.1 downstream_gene_variant ; 2264.0bp to feature; MODIFIER silent_mutation Average:66.633; most accessible tissue: Minghui63 root, score: 97.5 N N N N
vg0912105870 T -> A LOC_Os09g20200.1 downstream_gene_variant ; 4223.0bp to feature; MODIFIER silent_mutation Average:66.633; most accessible tissue: Minghui63 root, score: 97.5 N N N N
vg0912105870 T -> A LOC_Os09g20190-LOC_Os09g20200 intergenic_region ; MODIFIER silent_mutation Average:66.633; most accessible tissue: Minghui63 root, score: 97.5 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)
vg0912105870 T A 0.07 0.0 0.0 0.02 0.03 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0912105870 NA 1.08E-09 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
vg0912105870 NA 7.29E-07 mr1164_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
vg0912105870 NA 4.51E-06 mr1263_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
vg0912105870 NA 9.19E-07 mr1330_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
vg0912105870 NA 4.63E-06 mr1380_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
vg0912105870 1.24E-06 NA mr1579_2 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
vg0912105870 NA 6.19E-06 mr1627_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
vg0912105870 NA 4.87E-06 mr1977_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
vg0912105870 NA 1.07E-06 mr1996_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