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Detailed information for vg0227194862:

Variant ID: vg0227194862 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 27194862
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 117. )

Flanking Sequence (100 bp) in Reference Genome:


TTAGCCCTCAATTAGCCTATGGATCCAAACATATTACCCTAAACTAATATTTAGCTTACCAATTCAAGACTAAACATTGGTTCTCAAAATTAGCCCTGGG[T/C]
TAATCTTCCAAACAGGGCCCAAGCATTCCAATCCCGGTAGCACTAGCGTAGTAGTGCCCTTTACAAGTTGTTGCAGAAATGAAGTAGTCCGTGCGAGTGC

Reverse complement sequence

GCACTCGCACGGACTACTTCATTTCTGCAACAACTTGTAAAGGGCACTACTACGCTAGTGCTACCGGGATTGGAATGCTTGGGCCCTGTTTGGAAGATTA[A/G]
CCCAGGGCTAATTTTGAGAACCAATGTTTAGTCTTGAATTGGTAAGCTAAATATTAGTTTAGGGTAATATGTTTGGATCCATAGGCTAATTGAGGGCTAA

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 65.30% 34.20% 0.51% 0.00% NA
All Indica  2759 97.90% 2.10% 0.00% 0.00% NA
All Japonica  1512 7.10% 91.40% 1.52% 0.00% NA
Aus  269 89.20% 10.40% 0.37% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 99.00% 1.00% 0.00% 0.00% NA
Indica Intermediate  786 95.80% 4.20% 0.00% 0.00% NA
Temperate Japonica  767 9.80% 87.60% 2.61% 0.00% NA
Tropical Japonica  504 1.60% 98.40% 0.00% 0.00% NA
Japonica Intermediate  241 10.00% 88.80% 1.24% 0.00% NA
VI/Aromatic  96 1.00% 99.00% 0.00% 0.00% NA
Intermediate  90 44.40% 55.60% 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
vg0227194862 T -> C LOC_Os02g44890.1 upstream_gene_variant ; 2964.0bp to feature; MODIFIER silent_mutation Average:81.304; most accessible tissue: Minghui63 panicle, score: 96.065 N N N N
vg0227194862 T -> C LOC_Os02g44890.2 upstream_gene_variant ; 2964.0bp to feature; MODIFIER silent_mutation Average:81.304; most accessible tissue: Minghui63 panicle, score: 96.065 N N N N
vg0227194862 T -> C LOC_Os02g44890-LOC_Os02g44900 intergenic_region ; MODIFIER silent_mutation Average:81.304; most accessible tissue: Minghui63 panicle, score: 96.065 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)
vg0227194862 T C 0.11 0.09 0.07 0.06 0.05 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0227194862 9.59E-11 NA Awn_length All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0227194862 1.32E-09 8.09E-14 Awn_length Jap_All YES Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0227194862 NA 1.59E-06 mr1057 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
vg0227194862 NA 7.53E-06 mr1508 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
vg0227194862 NA 4.78E-14 mr1900 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
vg0227194862 NA 5.80E-07 mr1979 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
vg0227194862 NA 2.64E-17 mr1342_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
vg0227194862 NA 2.81E-19 mr1945_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