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Detailed information for vg0910981641:

Variant ID: vg0910981641 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 10981641
Reference Allele: TAlternative Allele: G
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTAGGAACGGTGGGTCCCATGGTTACCGAGCGGTTTGGCGTACTTTTGGTCTTCCCGAGTTTTTTTCATCGCTAACACACGGTATATTTGCAATCTTACC[T/G]
GGTGCAACGTGATACTCTCGGTAAGTCACCGAGTACTAGCAAAAACTAACTCCCGGTAACAGGGTGAGGCACACGGCAGCTTCACAAGCTCTGGTACTTG

Reverse complement sequence

CAAGTACCAGAGCTTGTGAAGCTGCCGTGTGCCTCACCCTGTTACCGGGAGTTAGTTTTTGCTAGTACTCGGTGACTTACCGAGAGTATCACGTTGCACC[A/C]
GGTAAGATTGCAAATATACCGTGTGTTAGCGATGAAAAAAACTCGGGAAGACCAAAAGTACGCCAAACCGCTCGGTAACCATGGGACCCACCGTTCCTAC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.20% 1.60% 1.31% 13.88% NA
All Indica  2759 79.60% 1.00% 1.74% 17.69% NA
All Japonica  1512 90.30% 2.10% 0.60% 7.01% NA
Aus  269 78.80% 1.50% 0.74% 18.96% NA
Indica I  595 78.30% 1.00% 1.68% 18.99% NA
Indica II  465 90.80% 0.20% 0.65% 8.39% NA
Indica III  913 74.60% 1.20% 1.53% 22.67% NA
Indica Intermediate  786 79.60% 1.30% 2.67% 16.41% NA
Temperate Japonica  767 97.70% 0.30% 0.13% 1.96% NA
Tropical Japonica  504 81.50% 3.00% 1.39% 14.09% NA
Japonica Intermediate  241 85.50% 5.80% 0.41% 8.30% NA
VI/Aromatic  96 85.40% 7.30% 3.12% 4.17% NA
Intermediate  90 87.80% 4.40% 0.00% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0910981641 T -> G LOC_Os09g17930.1 upstream_gene_variant ; 365.0bp to feature; MODIFIER silent_mutation Average:58.045; most accessible tissue: Callus, score: 93.384 N N N N
vg0910981641 T -> G LOC_Os09g17950.1 upstream_gene_variant ; 4566.0bp to feature; MODIFIER silent_mutation Average:58.045; most accessible tissue: Callus, score: 93.384 N N N N
vg0910981641 T -> G LOC_Os09g17940.1 downstream_gene_variant ; 1725.0bp to feature; MODIFIER silent_mutation Average:58.045; most accessible tissue: Callus, score: 93.384 N N N N
vg0910981641 T -> G LOC_Os09g17930-LOC_Os09g17940 intergenic_region ; MODIFIER silent_mutation Average:58.045; most accessible tissue: Callus, score: 93.384 N N N N
vg0910981641 T -> DEL N N silent_mutation Average:58.045; most accessible tissue: Callus, score: 93.384 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)
vg0910981641 T G 0.02 0.09 0.04 0.04 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0910981641 1.78E-06 5.90E-07 mr1344 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
vg0910981641 NA 3.61E-06 mr1486 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