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Detailed information for vg0900102817:

Variant ID: vg0900102817 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 102817
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGTGAATGGTCAGGGAGACCACGAGGGTCAACTTCCCTCCACGAGCGAGCACTGTTGGATGGTCGCTCTGGTCGAAGGTGAGCTTCACCTCCGACCAGCG[C/T]
GCCTTCCGAGTCGCCTCGTGGGTTGGGACGATGGCCAGACGCTCTCGCCTCATGGCCTTGAAGCCTCGGCGGGAGGTGTGAGCCCAAGCCCCCACCTCCC

Reverse complement sequence

GGGAGGTGGGGGCTTGGGCTCACACCTCCCGCCGAGGCTTCAAGGCCATGAGGCGAGAGCGTCTGGCCATCGTCCCAACCCACGAGGCGACTCGGAAGGC[G/A]
CGCTGGTCGGAGGTGAAGCTCACCTTCGACCAGAGCGACCATCCAACAGTGCTCGCTCGTGGAGGGAAGTTGACCCTCGTGGTCTCCCTGACCATTCACA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 77.80% 5.00% 1.65% 15.55% NA
All Indica  2759 76.60% 6.90% 2.07% 14.39% NA
All Japonica  1512 87.40% 0.00% 0.26% 12.37% NA
Aus  269 48.70% 14.10% 4.83% 32.34% NA
Indica I  595 84.50% 9.20% 1.68% 4.54% NA
Indica II  465 71.40% 1.90% 2.80% 23.87% NA
Indica III  913 72.40% 8.80% 1.64% 17.20% NA
Indica Intermediate  786 78.60% 6.00% 2.42% 12.98% NA
Temperate Japonica  767 76.90% 0.00% 0.26% 22.82% NA
Tropical Japonica  504 99.40% 0.00% 0.20% 0.40% NA
Japonica Intermediate  241 95.40% 0.00% 0.41% 4.15% NA
VI/Aromatic  96 37.50% 1.00% 3.12% 58.33% NA
Intermediate  90 82.20% 7.80% 1.11% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0900102817 C -> DEL LOC_Os09g01080.1 N frameshift_variant Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0900102817 C -> T LOC_Os09g01080.1 synonymous_variant ; p.Ala58Ala; LOW synonymous_codon Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0900102817 C T -0.03 -0.03 -0.03 -0.03 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0900102817 2.59E-06 NA mr1570_2 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