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Detailed information for vg1125670130:

Variant ID: vg1125670130 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 25670130
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCAATATAGCTCAGGGCTACTCAGCTTCAAAAGGTAAAAAAATGACATCGGCGCCTGTTAACATGGTGTTTGTATTGCCAGCAGAATACTGTGTGCAGGC[G/A]
GCCGATGAAGCGATGGCCGATGATGAACAAGGTTCAGCCAGGCTACGCTTGTCACCAGACCAAGCTATCTTCGACAAGCCAGTTGACGCCAGCCACAGAC

Reverse complement sequence

GTCTGTGGCTGGCGTCAACTGGCTTGTCGAAGATAGCTTGGTCTGGTGACAAGCGTAGCCTGGCTGAACCTTGTTCATCATCGGCCATCGCTTCATCGGC[C/T]
GCCTGCACACAGTATTCTGCTGGCAATACAAACACCATGTTAACAGGCGCCGATGTCATTTTTTTACCTTTTGAAGCTGAGTAGCCCTGAGCTATATTGG

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 60.80% 5.60% 2.67% 30.91% NA
All Indica  2759 60.00% 5.50% 2.79% 31.71% NA
All Japonica  1512 62.20% 5.20% 2.38% 30.22% NA
Aus  269 72.10% 6.70% 2.97% 18.22% NA
Indica I  595 87.20% 0.50% 0.67% 11.60% NA
Indica II  465 68.20% 1.70% 1.29% 28.82% NA
Indica III  913 38.00% 11.30% 5.04% 45.67% NA
Indica Intermediate  786 60.20% 4.70% 2.67% 32.44% NA
Temperate Japonica  767 82.00% 0.10% 1.69% 16.17% NA
Tropical Japonica  504 34.30% 12.90% 3.57% 49.21% NA
Japonica Intermediate  241 57.30% 5.40% 2.07% 35.27% NA
VI/Aromatic  96 27.10% 16.70% 3.12% 53.12% NA
Intermediate  90 62.20% 3.30% 2.22% 32.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1125670130 G -> A LOC_Os11g42630.1 synonymous_variant ; p.Ala819Ala; LOW synonymous_codon Average:67.275; most accessible tissue: Minghui63 flag leaf, score: 94.996 N N N N
vg1125670130 G -> DEL LOC_Os11g42630.1 N frameshift_variant Average:67.275; most accessible tissue: Minghui63 flag leaf, score: 94.996 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)
vg1125670130 G A -0.01 -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
vg1125670130 1.95E-07 1.95E-07 mr1173_2 Jap_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