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Detailed information for vg0808447137:

Variant ID: vg0808447137 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 8447137
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.03, others allele: 0.00, population size: 76. )

Flanking Sequence (100 bp) in Reference Genome:


CTGGCATGCCGGGCCGCTCATAGGCCAAGCAGCGGCACGTAGACAAGCTAGACGTAGCGGAGAAGAATATTGCACGGACGGGGATACAAGTTTGTCTCGC[G/A]
GCGAGTTGCCCCCCTCCCCCCCCCCCCGGGATGATGAGATAGTGGTGCTTGAGGCCTTATGTGCAGCGAGCTTCGAGTCCACCATGGCTTCGTTGGTGGT

Reverse complement sequence

ACCACCAACGAAGCCATGGTGGACTCGAAGCTCGCTGCACATAAGGCCTCAAGCACCACTATCTCATCATCCCGGGGGGGGGGGGAGGGGGGCAACTCGC[C/T]
GCGAGACAAACTTGTATCCCCGTCCGTGCAATATTCTTCTCCGCTACGTCTAGCTTGTCTACGTGCCGCTGCTTGGCCTATGAGCGGCCCGGCATGCCAG

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 66.20% 30.30% 2.33% 1.14% NA
All Indica  2759 51.00% 43.10% 3.95% 1.96% NA
All Japonica  1512 90.30% 9.70% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 33.60% 58.00% 8.24% 0.17% NA
Indica II  465 75.50% 20.60% 2.58% 1.29% NA
Indica III  913 44.90% 49.30% 2.41% 3.40% NA
Indica Intermediate  786 56.90% 37.80% 3.31% 2.04% NA
Temperate Japonica  767 99.10% 0.90% 0.00% 0.00% NA
Tropical Japonica  504 81.00% 19.00% 0.00% 0.00% NA
Japonica Intermediate  241 82.20% 17.80% 0.00% 0.00% NA
VI/Aromatic  96 26.00% 74.00% 0.00% 0.00% NA
Intermediate  90 71.10% 27.80% 1.11% 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
vg0808447137 G -> A LOC_Os08g14130.1 upstream_gene_variant ; 1497.0bp to feature; MODIFIER silent_mutation Average:66.208; most accessible tissue: Zhenshan97 flower, score: 91.386 N N N N
vg0808447137 G -> A LOC_Os08g14109.1 downstream_gene_variant ; 1218.0bp to feature; MODIFIER silent_mutation Average:66.208; most accessible tissue: Zhenshan97 flower, score: 91.386 N N N N
vg0808447137 G -> A LOC_Os08g14140.1 downstream_gene_variant ; 4523.0bp to feature; MODIFIER silent_mutation Average:66.208; most accessible tissue: Zhenshan97 flower, score: 91.386 N N N N
vg0808447137 G -> A LOC_Os08g14109-LOC_Os08g14130 intergenic_region ; MODIFIER silent_mutation Average:66.208; most accessible tissue: Zhenshan97 flower, score: 91.386 N N N N
vg0808447137 G -> DEL N N silent_mutation Average:66.208; most accessible tissue: Zhenshan97 flower, score: 91.386 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)
vg0808447137 G A -0.02 -0.01 -0.01 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0808447137 NA 7.65E-06 mr1092_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
vg0808447137 NA 2.22E-06 mr1097_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
vg0808447137 NA 3.90E-07 mr1152_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
vg0808447137 NA 1.11E-08 mr1215_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
vg0808447137 NA 3.62E-06 mr1215_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
vg0808447137 NA 1.90E-08 mr1407_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
vg0808447137 6.84E-07 8.57E-08 mr1566_2 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
vg0808447137 NA 9.78E-08 mr1869_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
vg0808447137 NA 2.22E-08 mr1885_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
vg0808447137 NA 1.29E-06 mr1924_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
vg0808447137 NA 8.96E-06 mr1943_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