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Detailed information for vg0917042786:

Variant ID: vg0917042786 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 17042786
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCACTGCGCCCTTCACCGCACGGTAGTGCATCCTCCTCGTTCTCCCTCCTCGCTCCCTCTCCTCCCCTTAGCTTTAGGTAGTAGCACGAGTAGACCTCCC[G/A]
TAACTAGCTGGCGCCGCCCCGACCGCTGCCAATGCTCGCTGTGTGCTCGCCGCTGTCGCCGCCCGAGCTCGATAGCGCCTGCACGTCGCCGGCCTCTCTC

Reverse complement sequence

GAGAGAGGCCGGCGACGTGCAGGCGCTATCGAGCTCGGGCGGCGACAGCGGCGAGCACACAGCGAGCATTGGCAGCGGTCGGGGCGGCGCCAGCTAGTTA[C/T]
GGGAGGTCTACTCGTGCTACTACCTAAAGCTAAGGGGAGGAGAGGGAGCGAGGAGGGAGAACGAGGAGGATGCACTACCGTGCGGTGAAGGGCGCAGTGA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.70% 0.60% 4.30% 4.36% NA
All Indica  2759 99.80% 0.00% 0.07% 0.11% NA
All Japonica  1512 74.90% 1.70% 11.38% 12.04% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.80% 0.00% 0.22% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.50% 0.00% 0.13% 0.38% NA
Temperate Japonica  767 95.00% 1.40% 2.48% 1.04% NA
Tropical Japonica  504 35.30% 2.40% 28.77% 33.53% NA
Japonica Intermediate  241 93.80% 0.80% 3.32% 2.07% NA
VI/Aromatic  96 54.20% 4.20% 23.96% 17.71% NA
Intermediate  90 88.90% 1.10% 5.56% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0917042786 G -> DEL N N silent_mutation Average:87.35; most accessible tissue: Minghui63 flag leaf, score: 96.628 N N N N
vg0917042786 G -> A LOC_Os09g28070.1 upstream_gene_variant ; 1960.0bp to feature; MODIFIER silent_mutation Average:87.35; most accessible tissue: Minghui63 flag leaf, score: 96.628 N N N N
vg0917042786 G -> A LOC_Os09g28060-LOC_Os09g28070 intergenic_region ; MODIFIER silent_mutation Average:87.35; most accessible tissue: Minghui63 flag leaf, score: 96.628 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)
vg0917042786 G A -0.02 -0.02 -0.02 -0.01 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0917042786 3.61E-07 1.07E-13 mr1641 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
vg0917042786 NA 8.19E-06 mr1641 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
vg0917042786 NA 1.29E-11 mr1398_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
vg0917042786 NA 3.01E-07 mr1398_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
vg0917042786 NA 4.00E-07 mr1401_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
vg0917042786 NA 6.85E-08 mr1408_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
vg0917042786 NA 3.24E-09 mr1676_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
vg0917042786 NA 1.82E-08 mr1905_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
vg0917042786 NA 2.53E-10 mr1916_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