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Detailed information for vg0906309211:

Variant ID: vg0906309211 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 6309211
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGCCCCACACGACTCTAGCAGAAAAACAAACGAGAAGAACACACGCGCAAGCCTACTAACTGCTCGTCTACTTCTGCGACGGGCCAGGGCGGAAGGTGAG[C/T]
AGTAGCGCATCCTCCATGCTGCCAACGCCAGAGGCTCCCTCCTCCTGAGGAACCACGGGCGCGGGCTCGGCACGAGGGGTCTCGACAAAACAGGTCCATG

Reverse complement sequence

CATGGACCTGTTTTGTCGAGACCCCTCGTGCCGAGCCCGCGCCCGTGGTTCCTCAGGAGGAGGGAGCCTCTGGCGTTGGCAGCATGGAGGATGCGCTACT[G/A]
CTCACCTTCCGCCCTGGCCCGTCGCAGAAGTAGACGAGCAGTTAGTAGGCTTGCGCGTGTGTTCTTCTCGTTTGTTTTTCTGCTAGAGTCGTGTGGGGCA

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 72.70% 0.70% 13.33% 13.35% NA
All Indica  2759 64.10% 1.10% 19.03% 15.84% NA
All Japonica  1512 87.70% 0.00% 0.86% 11.44% NA
Aus  269 73.60% 0.00% 26.02% 0.37% NA
Indica I  595 64.20% 0.70% 22.86% 12.27% NA
Indica II  465 60.00% 1.10% 13.98% 24.95% NA
Indica III  913 64.10% 1.00% 20.70% 14.24% NA
Indica Intermediate  786 66.40% 1.40% 17.18% 15.01% NA
Temperate Japonica  767 94.80% 0.00% 0.52% 4.69% NA
Tropical Japonica  504 91.30% 0.00% 0.20% 8.53% NA
Japonica Intermediate  241 57.70% 0.00% 3.32% 39.00% NA
VI/Aromatic  96 63.50% 1.00% 17.71% 17.71% NA
Intermediate  90 90.00% 1.10% 5.56% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0906309211 C -> DEL N N silent_mutation Average:59.327; most accessible tissue: Minghui63 flag leaf, score: 91.28 N N N N
vg0906309211 C -> T LOC_Os09g11360.1 intron_variant ; MODIFIER silent_mutation Average:59.327; most accessible tissue: Minghui63 flag leaf, score: 91.28 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)
vg0906309211 C T -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0906309211 2.52E-06 3.73E-06 mr1976_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