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Detailed information for vg1001297863:

Variant ID: vg1001297863 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 1297863
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.96, A: 0.04, others allele: 0.00, population size: 55. )

Flanking Sequence (100 bp) in Reference Genome:


TATGTCACACAAGTCATCAACTGTTCGAGTAGGAAGTTAGGAACAGGACTACCCTGTTACCCTTGACTTGCTTATACCAACCGGGCCTCACCGTCTTGCC[G/A]
TCGTGCTCACCCCGCAACCTCTCTGTCAGCCGTCACCACCATCCCTAGCGACTGATGGAAGCTTAGGGATGGTAATTTCCCCGTTGGGGGCAGGGACCCG

Reverse complement sequence

CGGGTCCCTGCCCCCAACGGGGAAATTACCATCCCTAAGCTTCCATCAGTCGCTAGGGATGGTGGTGACGGCTGACAGAGAGGTTGCGGGGTGAGCACGA[C/T]
GGCAAGACGGTGAGGCCCGGTTGGTATAAGCAAGTCAAGGGTAACAGGGTAGTCCTGTTCCTAACTTCCTACTCGAACAGTTGATGACTTGTGTGACATA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 62.70% 6.70% 1.06% 29.52% NA
All Indica  2759 59.30% 10.80% 1.34% 28.56% NA
All Japonica  1512 64.90% 0.40% 0.66% 34.06% NA
Aus  269 94.10% 0.70% 0.00% 5.20% NA
Indica I  595 75.50% 3.70% 1.18% 19.66% NA
Indica II  465 47.30% 6.90% 1.72% 44.09% NA
Indica III  913 51.00% 17.70% 0.99% 30.23% NA
Indica Intermediate  786 63.70% 10.40% 1.65% 24.17% NA
Temperate Japonica  767 87.60% 0.10% 0.13% 12.13% NA
Tropical Japonica  504 39.30% 0.80% 0.79% 59.13% NA
Japonica Intermediate  241 46.10% 0.40% 2.07% 51.45% NA
VI/Aromatic  96 37.50% 4.20% 3.12% 55.21% NA
Intermediate  90 64.40% 7.80% 0.00% 27.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1001297863 G -> A LOC_Os10g03090.1 upstream_gene_variant ; 3126.0bp to feature; MODIFIER silent_mutation Average:53.181; most accessible tissue: Minghui63 young leaf, score: 91.428 N N N N
vg1001297863 G -> A LOC_Os10g03080.1 downstream_gene_variant ; 3738.0bp to feature; MODIFIER silent_mutation Average:53.181; most accessible tissue: Minghui63 young leaf, score: 91.428 N N N N
vg1001297863 G -> A LOC_Os10g03080-LOC_Os10g03090 intergenic_region ; MODIFIER silent_mutation Average:53.181; most accessible tissue: Minghui63 young leaf, score: 91.428 N N N N
vg1001297863 G -> DEL N N silent_mutation Average:53.181; most accessible tissue: Minghui63 young leaf, score: 91.428 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)
vg1001297863 G A -0.02 -0.02 -0.02 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1001297863 1.65E-22 6.57E-19 mr1486 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
vg1001297863 5.68E-20 1.48E-17 mr1548 Ind_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
vg1001297863 4.30E-10 3.65E-07 mr1588 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
vg1001297863 1.20E-26 2.84E-21 mr1486_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
vg1001297863 2.24E-21 2.52E-11 mr1588_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