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Detailed information for vg0804768881:

Variant ID: vg0804768881 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 4768881
Reference Allele: GAlternative Allele: A,C
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAGTTTGAAGAAAATTGGAAGTTTAGAAAAAAAAAGTTGGAAGTTTATTTGTATAGAAAAGTTTTTGATGTGATATGATGTGATGGAAAATTGTGAATAG[G/A,C]
AAGAAAACTAAACACGGCCGAATAATGACACACCGGACGCGGTTCGTTGCTTCGAGACTTCCACGAAACTGCCAGAGACGCCGAAGTTTTTCGGCTTTGA

Reverse complement sequence

TCAAAGCCGAAAAACTTCGGCGTCTCTGGCAGTTTCGTGGAAGTCTCGAAGCAACGAACCGCGTCCGGTGTGTCATTATTCGGCCGTGTTTAGTTTTCTT[C/T,G]
CTATTCACAATTTTCCATCACATCATATCACATCAAAAACTTTTCTATACAAATAAACTTCCAACTTTTTTTTTCTAAACTTCCAATTTTCTTCAAACTT

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 66.50% 10.30% 0.13% 23.02% C: 0.02%
All Indica  2759 68.00% 17.10% 0.11% 14.75% C: 0.04%
All Japonica  1512 56.80% 0.30% 0.13% 42.79% NA
Aus  269 97.00% 0.00% 0.00% 2.97% NA
Indica I  595 90.30% 3.40% 0.34% 6.05% NA
Indica II  465 36.80% 7.50% 0.22% 55.48% NA
Indica III  913 68.80% 30.70% 0.00% 0.44% C: 0.11%
Indica Intermediate  786 68.70% 17.40% 0.00% 13.87% NA
Temperate Japonica  767 87.40% 0.00% 0.13% 12.52% NA
Tropical Japonica  504 18.80% 0.20% 0.00% 80.95% NA
Japonica Intermediate  241 39.00% 1.20% 0.41% 59.34% NA
VI/Aromatic  96 90.60% 3.10% 0.00% 6.25% NA
Intermediate  90 65.60% 11.10% 1.11% 22.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0804768881 G -> C LOC_Os08g08310.1 downstream_gene_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:40.06; most accessible tissue: Zhenshan97 root, score: 90.835 N N N N
vg0804768881 G -> C LOC_Os08g08310-LOC_Os08g08320 intergenic_region ; MODIFIER silent_mutation Average:40.06; most accessible tissue: Zhenshan97 root, score: 90.835 N N N N
vg0804768881 G -> A LOC_Os08g08310.1 downstream_gene_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:40.06; most accessible tissue: Zhenshan97 root, score: 90.835 N N N N
vg0804768881 G -> A LOC_Os08g08310-LOC_Os08g08320 intergenic_region ; MODIFIER silent_mutation Average:40.06; most accessible tissue: Zhenshan97 root, score: 90.835 N N N N
vg0804768881 G -> DEL N N silent_mutation Average:40.06; most accessible tissue: Zhenshan97 root, score: 90.835 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)
vg0804768881 G A 0.03 -0.02 -0.01 0.01 0.02 0.01
vg0804768881 G C 0.05 -0.03 -0.02 -0.03 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0804768881 NA 7.53E-09 mr1624 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
vg0804768881 NA 6.80E-06 mr1624 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
vg0804768881 NA 2.62E-07 mr1671 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
vg0804768881 NA 1.11E-06 mr1751 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
vg0804768881 NA 1.98E-06 mr1870 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
vg0804768881 NA 5.69E-09 mr1671_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