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Detailed information for vg0922186621:

Variant ID: vg0922186621 (JBrowse)Variation Type: INDEL
Chromosome: chr09Position: 22186621
Reference Allele: TAlternative Allele: TG,G
Primary Allele: TGSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAAGCCAACCCTACTGATTTTAAATCCACAAGGGTAGGAGTGCATGATCAGACTCAAAAACTCTGGTGAGCAGTGAGCTAAATAAATTGCACTTTTTTTT[T/TG,G]
AACATTAAATAAATTGCACTTGTGCACAGTTCTGCACTTAATATGCAAGCATCAGATAACTGCAACTAGTCTTGCATATACGGTGATGATAGTAGCAGTA

Reverse complement sequence

TACTGCTACTATCATCACCGTATATGCAAGACTAGTTGCAGTTATCTGATGCTTGCATATTAAGTGCAGAACTGTGCACAAGTGCAATTTATTTAATGTT[A/CA,C]
AAAAAAAAGTGCAATTTATTTAGCTCACTGCTCACCAGAGTTTTTGAGTCTGATCATGCACTCCTACCCTTGTGGATTTAAAATCAGTAGGGTTGGCTTG

Allele Frequencies:

Populations Population SizeFrequency of TG(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 39.80% 37.70% 0.89% 0.00% G: 21.58%
All Indica  2759 60.90% 1.90% 1.34% 0.00% G: 35.88%
All Japonica  1512 0.40% 99.50% 0.00% 0.00% G: 0.13%
Aus  269 65.10% 27.90% 0.74% 0.00% G: 6.32%
Indica I  595 58.20% 1.00% 0.67% 0.00% G: 40.17%
Indica II  465 60.20% 2.80% 0.65% 0.00% G: 36.34%
Indica III  913 64.20% 0.30% 2.30% 0.00% G: 33.19%
Indica Intermediate  786 59.50% 3.80% 1.15% 0.00% G: 35.50%
Temperate Japonica  767 0.10% 99.70% 0.00% 0.00% G: 0.13%
Tropical Japonica  504 0.80% 99.20% 0.00% 0.00% NA
Japonica Intermediate  241 0.40% 99.20% 0.00% 0.00% G: 0.41%
VI/Aromatic  96 4.20% 94.80% 0.00% 0.00% G: 1.04%
Intermediate  90 20.00% 65.60% 3.33% 0.00% G: 11.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0922186621 T -> G LOC_Os09g38570.1 upstream_gene_variant ; 1471.0bp to feature; MODIFIER silent_mutation Average:92.048; most accessible tissue: Minghui63 root, score: 96.759 N N N N
vg0922186621 T -> G LOC_Os09g38560.1 downstream_gene_variant ; 3331.0bp to feature; MODIFIER silent_mutation Average:92.048; most accessible tissue: Minghui63 root, score: 96.759 N N N N
vg0922186621 T -> G LOC_Os09g38560-LOC_Os09g38570 intergenic_region ; MODIFIER silent_mutation Average:92.048; most accessible tissue: Minghui63 root, score: 96.759 N N N N
vg0922186621 T -> TG LOC_Os09g38570.1 upstream_gene_variant ; 1470.0bp to feature; MODIFIER silent_mutation Average:92.048; most accessible tissue: Minghui63 root, score: 96.759 N N N N
vg0922186621 T -> TG LOC_Os09g38560.1 downstream_gene_variant ; 3332.0bp to feature; MODIFIER silent_mutation Average:92.048; most accessible tissue: Minghui63 root, score: 96.759 N N N N
vg0922186621 T -> TG LOC_Os09g38560-LOC_Os09g38570 intergenic_region ; MODIFIER silent_mutation Average:92.048; most accessible tissue: Minghui63 root, score: 96.759 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)
vg0922186621 T G -0.08 0.03 0.02 -0.01 0.01 0.0
vg0922186621 T TG -0.26 0.03 0.0 0.03 0.07 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0922186621 NA 8.72E-07 mr1272_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
vg0922186621 NA 8.78E-07 mr1629_2 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
vg0922186621 2.66E-06 NA mr1865_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
vg0922186621 1.59E-06 5.36E-07 mr1865_2 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
vg0922186621 NA 3.06E-06 mr1968_2 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