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Detailed information for vg1219906683:

Variant ID: vg1219906683 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 19906683
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, T: 0.03, others allele: 0.00, population size: 116. )

Flanking Sequence (100 bp) in Reference Genome:


GTTATGCCTCGAGATTCGTGGGGTGGGTGGTGGTGCGGTGGGCGGGGTCCATAGGATAGGTAGGCGTGCACGCGACCGACCGGGGATGGGGGTGGCGGGG[G/T]
CGTGACGTAGAAGGCAAACGTTCTAGAAGTTTCCTTGGATGGGCCTTGATGTACTGGGCCGTGACGCAACCTCTTGAGCCGGCCCAAATTTGGCATGCCG

Reverse complement sequence

CGGCATGCCAAATTTGGGCCGGCTCAAGAGGTTGCGTCACGGCCCAGTACATCAAGGCCCATCCAAGGAAACTTCTAGAACGTTTGCCTTCTACGTCACG[C/A]
CCCCGCCACCCCCATCCCCGGTCGGTCGCGTGCACGCCTACCTATCCTATGGACCCCGCCCACCGCACCACCACCCACCCCACGAATCTCGAGGCATAAC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.10% 27.80% 0.11% 0.00% NA
All Indica  2759 59.80% 40.10% 0.11% 0.00% NA
All Japonica  1512 98.50% 1.50% 0.07% 0.00% NA
Aus  269 38.30% 61.30% 0.37% 0.00% NA
Indica I  595 41.20% 58.50% 0.34% 0.00% NA
Indica II  465 83.90% 15.90% 0.22% 0.00% NA
Indica III  913 50.30% 49.70% 0.00% 0.00% NA
Indica Intermediate  786 70.90% 29.10% 0.00% 0.00% NA
Temperate Japonica  767 98.80% 1.00% 0.13% 0.00% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 95.90% 4.10% 0.00% 0.00% NA
VI/Aromatic  96 86.50% 13.50% 0.00% 0.00% NA
Intermediate  90 91.10% 8.90% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1219906683 G -> T LOC_Os12g32950.1 upstream_gene_variant ; 351.0bp to feature; MODIFIER silent_mutation Average:99.804; most accessible tissue: Minghui63 young leaf, score: 99.887 N N N N
vg1219906683 G -> T LOC_Os12g32960.1 upstream_gene_variant ; 1382.0bp to feature; MODIFIER silent_mutation Average:99.804; most accessible tissue: Minghui63 young leaf, score: 99.887 N N N N
vg1219906683 G -> T LOC_Os12g32970.1 downstream_gene_variant ; 3900.0bp to feature; MODIFIER silent_mutation Average:99.804; most accessible tissue: Minghui63 young leaf, score: 99.887 N N N N
vg1219906683 G -> T LOC_Os12g32950-LOC_Os12g32960 intergenic_region ; MODIFIER silent_mutation Average:99.804; most accessible tissue: Minghui63 young leaf, score: 99.887 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)
vg1219906683 G T -0.01 0.0 0.01 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1219906683 4.78E-06 NA mr1201 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
vg1219906683 NA 5.47E-06 mr1531 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
vg1219906683 NA 7.85E-06 mr1265_2 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