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Detailed information for vg0808270560:

Variant ID: vg0808270560 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 8270560
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.94, C: 0.06, others allele: 0.00, population size: 97. )

Flanking Sequence (100 bp) in Reference Genome:


ATCATCTGATTGGTCCACGTGGTGCCTATAAAGATAAATTCGAGTTGTCAGGGACAAAAATAAAAAGAATCCAAAACCATATATGGAAGAATCTGGCACC[G/C]
TGCTGCGTGACTTGCGGGCTGCGGCTGGCTGGCACAAGCAGAAGTGTGGGCAGCTTGGTCTGTATGGGTCTGGTGTAGTGCTAAGGGTGTGTTTGGTTGG

Reverse complement sequence

CCAACCAAACACACCCTTAGCACTACACCAGACCCATACAGACCAAGCTGCCCACACTTCTGCTTGTGCCAGCCAGCCGCAGCCCGCAAGTCACGCAGCA[C/G]
GGTGCCAGATTCTTCCATATATGGTTTTGGATTCTTTTTATTTTTGTCCCTGACAACTCGAATTTATCTTTATAGGCACCACGTGGACCAATCAGATGAT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 34.70% 2.80% 11.21% 51.35% NA
All Indica  2759 5.90% 3.80% 10.98% 79.23% NA
All Japonica  1512 89.40% 0.20% 3.17% 7.21% NA
Aus  269 7.40% 6.70% 55.76% 30.11% NA
Indica I  595 6.20% 3.50% 10.08% 80.17% NA
Indica II  465 7.30% 3.40% 18.92% 70.32% NA
Indica III  913 4.80% 4.20% 6.02% 84.99% NA
Indica Intermediate  786 6.20% 3.90% 12.72% 77.10% NA
Temperate Japonica  767 97.50% 0.00% 0.52% 1.96% NA
Tropical Japonica  504 79.00% 0.40% 5.36% 15.28% NA
Japonica Intermediate  241 85.50% 0.40% 7.05% 7.05% NA
VI/Aromatic  96 74.00% 1.00% 16.67% 8.33% NA
Intermediate  90 35.60% 2.20% 14.44% 47.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0808270560 G -> C LOC_Os08g13850.1 downstream_gene_variant ; 711.0bp to feature; MODIFIER silent_mutation Average:80.79; most accessible tissue: Zhenshan97 young leaf, score: 89.978 N N N N
vg0808270560 G -> C LOC_Os08g13850-LOC_Os08g13860 intergenic_region ; MODIFIER silent_mutation Average:80.79; most accessible tissue: Zhenshan97 young leaf, score: 89.978 N N N N
vg0808270560 G -> DEL N N silent_mutation Average:80.79; most accessible tissue: Zhenshan97 young leaf, score: 89.978 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)
vg0808270560 G C 0.13 0.03 0.02 0.05 0.1 0.16

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0808270560 NA 1.28E-09 mr1006 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
vg0808270560 NA 6.27E-08 mr1007 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
vg0808270560 NA 6.98E-10 mr1052 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
vg0808270560 NA 8.01E-14 mr1376 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
vg0808270560 NA 8.01E-14 mr1431 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
vg0808270560 NA 5.21E-07 mr1006_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
vg0808270560 NA 1.18E-07 mr1219_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
vg0808270560 NA 1.55E-08 mr1334_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
vg0808270560 NA 9.12E-06 mr1914_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