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Detailed information for vg0102741030:

Variant ID: vg0102741030 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 2741030
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.98, C: 0.02, others allele: 0.00, population size: 112. )

Flanking Sequence (100 bp) in Reference Genome:


GGAGTATGCAAACAATGCCACTTTTATTTTTATCATAGCATACATGTTCTATTTGTGCACTCAAAATACCCGGTGAAGTAATTTTCTTAAAAGAACACCT[T/C]
TTTGAAAAGAAAATAATAAATACTCCGTACAAAAGAAACCTAGGGCCTGTTCACTTAGATGCTATTTTCAACCTTACCAAATTTTAGTAAAGTTACAAAA

Reverse complement sequence

TTTTGTAACTTTACTAAAATTTGGTAAGGTTGAAAATAGCATCTAAGTGAACAGGCCCTAGGTTTCTTTTGTACGGAGTATTTATTATTTTCTTTTCAAA[A/G]
AGGTGTTCTTTTAAGAAAATTACTTCACCGGGTATTTTGAGTGCACAAATAGAACATGTATGCTATGATAAAAATAAAAGTGGCATTGTTTGCATACTCC

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 62.00% 37.40% 0.63% 0.00% NA
All Indica  2759 41.10% 58.20% 0.72% 0.00% NA
All Japonica  1512 91.90% 7.90% 0.20% 0.00% NA
Aus  269 98.50% 1.50% 0.00% 0.00% NA
Indica I  595 72.10% 26.70% 1.18% 0.00% NA
Indica II  465 15.70% 83.90% 0.43% 0.00% NA
Indica III  913 38.80% 60.90% 0.33% 0.00% NA
Indica Intermediate  786 35.20% 63.70% 1.02% 0.00% NA
Temperate Japonica  767 85.10% 14.60% 0.26% 0.00% NA
Tropical Japonica  504 99.40% 0.60% 0.00% 0.00% NA
Japonica Intermediate  241 97.90% 1.70% 0.41% 0.00% NA
VI/Aromatic  96 92.70% 6.20% 1.04% 0.00% NA
Intermediate  90 57.80% 35.60% 6.67% 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
vg0102741030 T -> C LOC_Os01g05730.1 upstream_gene_variant ; 3200.0bp to feature; MODIFIER silent_mutation Average:75.588; most accessible tissue: Minghui63 flower, score: 88.673 N N N N
vg0102741030 T -> C LOC_Os01g05744.1 upstream_gene_variant ; 1477.0bp to feature; MODIFIER silent_mutation Average:75.588; most accessible tissue: Minghui63 flower, score: 88.673 N N N N
vg0102741030 T -> C LOC_Os01g05730-LOC_Os01g05744 intergenic_region ; MODIFIER silent_mutation Average:75.588; most accessible tissue: Minghui63 flower, score: 88.673 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)
vg0102741030 T C -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
vg0102741030 NA 9.95E-12 mr1174 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
vg0102741030 NA 4.76E-07 mr1174 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
vg0102741030 NA 1.78E-06 mr1347 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
vg0102741030 NA 2.16E-06 mr1036_2 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
vg0102741030 NA 1.30E-07 mr1169_2 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
vg0102741030 NA 9.96E-16 mr1174_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
vg0102741030 NA 6.78E-11 mr1174_2 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
vg0102741030 NA 8.66E-12 mr1347_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
vg0102741030 NA 2.62E-09 mr1347_2 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
vg0102741030 NA 1.01E-07 mr1659_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
vg0102741030 NA 4.35E-06 mr1659_2 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