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Detailed information for vg0610649532:

Variant ID: vg0610649532 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 10649532
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GAGCACGGTACCAAGCTAATGAGTACTGAGCAGTCGAGCTAGTGCCCAGCCTTGCGTTGAACATCACATTACGTACGTTTCAGCAAGCAGGTGCTCGATC[G/T]
ATCGGCCATGGCACCGCCCACGGTGCTCAACTCCGGCGAGCCCGACGCCCGACGCCGCGAGCGGCCGCACGTCGTCTTCATCCCGAGCGCCGGCATGGGC

Reverse complement sequence

GCCCATGCCGGCGCTCGGGATGAAGACGACGTGCGGCCGCTCGCGGCGTCGGGCGTCGGGCTCGCCGGAGTTGAGCACCGTGGGCGGTGCCATGGCCGAT[C/A]
GATCGAGCACCTGCTTGCTGAAACGTACGTAATGTGATGTTCAACGCAAGGCTGGGCACTAGCTCGACTGCTCAGTACTCATTAGCTTGGTACCGTGCTC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 91.70% 7.00% 0.76% 0.61% NA
All Indica  2759 89.80% 8.40% 1.01% 0.76% NA
All Japonica  1512 94.00% 5.20% 0.40% 0.46% NA
Aus  269 97.80% 2.20% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 91.40% 8.00% 0.43% 0.22% NA
Indica III  913 81.20% 16.00% 1.20% 1.64% NA
Indica Intermediate  786 91.10% 6.40% 1.91% 0.64% NA
Temperate Japonica  767 90.50% 8.90% 0.13% 0.52% NA
Tropical Japonica  504 98.20% 0.40% 0.79% 0.60% NA
Japonica Intermediate  241 96.30% 3.30% 0.41% 0.00% NA
VI/Aromatic  96 91.70% 8.30% 0.00% 0.00% NA
Intermediate  90 92.20% 4.40% 2.22% 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
vg0610649532 G -> T LOC_Os06g18780.1 upstream_gene_variant ; 8.0bp to feature; MODIFIER silent_mutation Average:95.192; most accessible tissue: Minghui63 flag leaf, score: 98.252 N N N N
vg0610649532 G -> T LOC_Os06g18770-LOC_Os06g18780 intergenic_region ; MODIFIER silent_mutation Average:95.192; most accessible tissue: Minghui63 flag leaf, score: 98.252 N N N N
vg0610649532 G -> DEL N N silent_mutation Average:95.192; most accessible tissue: Minghui63 flag leaf, score: 98.252 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)
vg0610649532 G T 0.0 0.0 0.0 0.0 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0610649532 4.89E-07 NA mr1165_2 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