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Detailed information for vg0824858262:

Variant ID: vg0824858262 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 24858262
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTAGATTTATGTAATATTGTAAAACAACTTTTATATAGAAAATTGTAAAACAACTTTTATATTGTGCCAAACGGTTTTTTCCTTTTTTGGAGCGGAGTTT[G/A]
CAGAGCTGCTCCACAAATTTGTACTACGGGGGTGGAGCTGGGTTTTTCTGCTCCACAGCTCCACTCCATCCCAAAAGACCCACTAACCTTTAATTTTTTA

Reverse complement sequence

TAAAAAATTAAAGGTTAGTGGGTCTTTTGGGATGGAGTGGAGCTGTGGAGCAGAAAAACCCAGCTCCACCCCCGTAGTACAAATTTGTGGAGCAGCTCTG[C/T]
AAACTCCGCTCCAAAAAAGGAAAAAACCGTTTGGCACAATATAAAAGTTGTTTTACAATTTTCTATATAAAAGTTGTTTTACAATATTACATAAATCTAA

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 90.80% 9.00% 0.23% 0.00% NA
All Indica  2759 96.30% 3.40% 0.29% 0.00% NA
All Japonica  1512 79.10% 20.80% 0.13% 0.00% NA
Aus  269 97.00% 3.00% 0.00% 0.00% NA
Indica I  595 97.10% 2.90% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 94.40% 4.90% 0.66% 0.00% NA
Indica Intermediate  786 95.80% 3.90% 0.25% 0.00% NA
Temperate Japonica  767 96.50% 3.50% 0.00% 0.00% NA
Tropical Japonica  504 65.90% 33.70% 0.40% 0.00% NA
Japonica Intermediate  241 51.50% 48.50% 0.00% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 0.00% 0.00% NA
Intermediate  90 90.00% 8.90% 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
vg0824858262 G -> A LOC_Os08g39340.1 upstream_gene_variant ; 2875.0bp to feature; MODIFIER silent_mutation Average:83.69; most accessible tissue: Zhenshan97 young leaf, score: 94.037 N N N N
vg0824858262 G -> A LOC_Os08g39330.1 downstream_gene_variant ; 2505.0bp to feature; MODIFIER silent_mutation Average:83.69; most accessible tissue: Zhenshan97 young leaf, score: 94.037 N N N N
vg0824858262 G -> A LOC_Os08g39330-LOC_Os08g39340 intergenic_region ; MODIFIER silent_mutation Average:83.69; most accessible tissue: Zhenshan97 young leaf, score: 94.037 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)
vg0824858262 G A 0.0 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
vg0824858262 1.67E-06 3.71E-08 mr1761 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
vg0824858262 3.94E-06 3.94E-06 mr1579_2 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
vg0824858262 NA 7.65E-06 mr1745_2 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