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Detailed information for vg0123529738:

Variant ID: vg0123529738 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 23529738
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTATAACAGGATAGTGTGACCGTTGTGTGGACGACTCTGGTCGTCGCGAATCATGTACAGAACACATGCTGTGGAATCAGCCAGCTGACAGTTTAGCAAG[C/T]
CATCTTACAATGGGTCTTTTGAAGAGCTTCAGATTGTGAGAAGCAGCTTGTTTTTAGCTAGCTTATAAAAATATAGAAAAGCTGGGTTTCTCAGCTTCTG

Reverse complement sequence

CAGAAGCTGAGAAACCCAGCTTTTCTATATTTTTATAAGCTAGCTAAAAACAAGCTGCTTCTCACAATCTGAAGCTCTTCAAAAGACCCATTGTAAGATG[G/A]
CTTGCTAAACTGTCAGCTGGCTGATTCCACAGCATGTGTTCTGTACATGATTCGCGACGACCAGAGTCGTCCACACAACGGTCACACTATCCTGTTATAA

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 40.30% 19.70% 1.18% 38.89% NA
All Indica  2759 41.60% 4.10% 1.63% 52.74% NA
All Japonica  1512 29.80% 50.90% 0.33% 19.05% NA
Aus  269 92.60% 1.10% 0.00% 6.32% NA
Indica I  595 7.70% 0.70% 2.52% 89.08% NA
Indica II  465 38.90% 3.40% 2.37% 55.27% NA
Indica III  913 61.60% 6.70% 0.66% 31.11% NA
Indica Intermediate  786 45.50% 3.90% 1.65% 48.85% NA
Temperate Japonica  767 45.00% 53.70% 0.13% 1.17% NA
Tropical Japonica  504 5.20% 54.60% 0.40% 39.88% NA
Japonica Intermediate  241 32.80% 34.00% 0.83% 32.37% NA
VI/Aromatic  96 12.50% 25.00% 3.12% 59.38% NA
Intermediate  90 50.00% 23.30% 3.33% 23.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0123529738 C -> T LOC_Os01g41565.1 downstream_gene_variant ; 351.0bp to feature; MODIFIER silent_mutation Average:49.551; most accessible tissue: Minghui63 panicle, score: 87.605 N N N N
vg0123529738 C -> T LOC_Os01g41560-LOC_Os01g41565 intergenic_region ; MODIFIER silent_mutation Average:49.551; most accessible tissue: Minghui63 panicle, score: 87.605 N N N N
vg0123529738 C -> DEL N N silent_mutation Average:49.551; most accessible tissue: Minghui63 panicle, score: 87.605 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)
vg0123529738 C T -0.04 -0.03 -0.04 -0.05 -0.07 -0.09

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0123529738 8.81E-07 NA mr1977_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
vg0123529738 NA 7.94E-06 mr1977_2 Jap_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