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Detailed information for vg1210007164:

Variant ID: vg1210007164 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 10007164
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTGCCGAACTCGTTTAGTTCGGTGAAGAGCCCAAGGCCGTCGGTCGGTGCAATAACATGGCACACACCGTCCACGAACGGAGGATCTCCGGCCGCATGGC[G/A]
AAATCAGCAGGGACGAAGTGTGGGCAGTGAGCGTCACGTCCGAAACGGTCGCTTCGACCGCCGGAGCTTTTCCCTCCCGTTGACGGGCTGGCGAAGGAAT

Reverse complement sequence

ATTCCTTCGCCAGCCCGTCAACGGGAGGGAAAAGCTCCGGCGGTCGAAGCGACCGTTTCGGACGTGACGCTCACTGCCCACACTTCGTCCCTGCTGATTT[C/T]
GCCATGCGGCCGGAGATCCTCCGTTCGTGGACGGTGTGTGCCATGTTATTGCACCGACCGACGGCCTTGGGCTCTTCACCGAACTAAACGAGTTCGGCAA

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 59.00% 6.20% 12.67% 22.15% NA
All Indica  2759 51.80% 4.40% 19.43% 24.32% NA
All Japonica  1512 79.80% 0.40% 0.99% 18.85% NA
Aus  269 22.30% 58.40% 11.90% 7.43% NA
Indica I  595 39.30% 0.00% 24.71% 35.97% NA
Indica II  465 66.70% 0.20% 10.32% 22.80% NA
Indica III  913 53.90% 9.20% 21.69% 15.22% NA
Indica Intermediate  786 50.10% 4.70% 18.19% 26.97% NA
Temperate Japonica  767 89.60% 0.10% 0.26% 10.04% NA
Tropical Japonica  504 70.00% 0.60% 1.39% 27.98% NA
Japonica Intermediate  241 68.90% 0.80% 2.49% 27.80% NA
VI/Aromatic  96 33.30% 0.00% 10.42% 56.25% NA
Intermediate  90 65.60% 8.90% 6.67% 18.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1210007164 G -> DEL N N silent_mutation Average:57.166; most accessible tissue: Minghui63 flag leaf, score: 89.621 N N N N
vg1210007164 G -> A LOC_Os12g17450.1 downstream_gene_variant ; 3543.0bp to feature; MODIFIER silent_mutation Average:57.166; most accessible tissue: Minghui63 flag leaf, score: 89.621 N N N N
vg1210007164 G -> A LOC_Os12g17460.1 downstream_gene_variant ; 2322.0bp to feature; MODIFIER silent_mutation Average:57.166; most accessible tissue: Minghui63 flag leaf, score: 89.621 N N N N
vg1210007164 G -> A LOC_Os12g17480.1 downstream_gene_variant ; 3335.0bp to feature; MODIFIER silent_mutation Average:57.166; most accessible tissue: Minghui63 flag leaf, score: 89.621 N N N N
vg1210007164 G -> A LOC_Os12g17470.1 intron_variant ; MODIFIER silent_mutation Average:57.166; most accessible tissue: Minghui63 flag leaf, score: 89.621 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)
vg1210007164 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
vg1210007164 NA 1.51E-14 mr1897 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