Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg1209746327:

Variant ID: vg1209746327 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 9746327
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGCTCGGTAGCCACGTGGTTTCCACGTGTGCAGCCCGCGTGGTGTCTAGTGGAGTCCGTTTGTCGGCCACTCGCCTCGGTTGACACACGGGGTCCGCTTC[T/C]
GTCGACCCGTGGACCGTCTCTATGTACCCGGTCTGCCGTGGTCTCTTAGGTTGACATGTGGGGTCCGCATGTCAACAGCGCAGCCTTCCTGTCTTTTCCA

Reverse complement sequence

TGGAAAAGACAGGAAGGCTGCGCTGTTGACATGCGGACCCCACATGTCAACCTAAGAGACCACGGCAGACCGGGTACATAGAGACGGTCCACGGGTCGAC[A/G]
GAAGCGGACCCCGTGTGTCAACCGAGGCGAGTGGCCGACAAACGGACTCCACTAGACACCACGCGGGCTGCACACGTGGAAACCACGTGGCTACCGAGCG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.10% 0.70% 7.89% 16.36% NA
All Indica  2759 78.00% 1.20% 11.09% 9.79% NA
All Japonica  1512 82.00% 0.10% 1.92% 16.01% NA
Aus  269 15.60% 0.00% 8.92% 75.46% NA
Indica I  595 70.90% 2.20% 12.27% 14.62% NA
Indica II  465 72.00% 0.90% 14.62% 12.47% NA
Indica III  913 85.10% 0.40% 9.64% 4.82% NA
Indica Intermediate  786 78.50% 1.40% 9.80% 10.31% NA
Temperate Japonica  767 90.00% 0.00% 0.65% 9.39% NA
Tropical Japonica  504 79.80% 0.00% 1.98% 18.25% NA
Japonica Intermediate  241 61.40% 0.40% 5.81% 32.37% NA
VI/Aromatic  96 45.80% 0.00% 8.33% 45.83% NA
Intermediate  90 77.80% 0.00% 6.67% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1209746327 T -> C LOC_Os12g17040.1 upstream_gene_variant ; 3371.0bp to feature; MODIFIER silent_mutation Average:48.303; most accessible tissue: Minghui63 flag leaf, score: 88.459 N N N N
vg1209746327 T -> C LOC_Os12g17030-LOC_Os12g17040 intergenic_region ; MODIFIER silent_mutation Average:48.303; most accessible tissue: Minghui63 flag leaf, score: 88.459 N N N N
vg1209746327 T -> DEL N N silent_mutation Average:48.303; most accessible tissue: Minghui63 flag leaf, score: 88.459 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)
vg1209746327 T C 0.0 0.0 0.0 -0.01 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1209746327 NA 2.74E-06 mr1826_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