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Detailed information for vg1206419905:

Variant ID: vg1206419905 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 6419905
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTTTTCATATGGTACAACATGTCACTACAAACAGGTAAGAAATGTTAGAATCTCTTCTAATTTTACTCTTTCTTTGATTTTATGAATAAAATGACCTAT[A/G]
GGTGGCGACGCGATGTCTCAGCCTTCGCGCACATAGTCCCATGTGGACTCAAGGTAAGTTTCATTTCAATTGAATAAAATAAAAGACACGTCCGGTTTTT

Reverse complement sequence

AAAAACCGGACGTGTCTTTTATTTTATTCAATTGAAATGAAACTTACCTTGAGTCCACATGGGACTATGTGCGCGAAGGCTGAGACATCGCGTCGCCACC[T/C]
ATAGGTCATTTTATTCATAAAATCAAAGAAAGAGTAAAATTAGAAGAGATTCTAACATTTCTTACCTGTTTGTAGTGACATGTTGTACCATATGAAAAAA

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 27.50% 13.60% 0.25% 58.61% NA
All Indica  2759 37.70% 6.10% 0.18% 56.00% NA
All Japonica  1512 8.80% 27.10% 0.40% 63.69% NA
Aus  269 6.30% 19.30% 0.37% 73.98% NA
Indica I  595 86.40% 4.00% 0.50% 9.08% NA
Indica II  465 21.50% 17.00% 0.22% 61.29% NA
Indica III  913 12.70% 1.20% 0.00% 86.09% NA
Indica Intermediate  786 39.40% 7.00% 0.13% 53.44% NA
Temperate Japonica  767 14.50% 33.60% 0.52% 51.37% NA
Tropical Japonica  504 2.60% 10.30% 0.20% 86.90% NA
Japonica Intermediate  241 3.70% 41.50% 0.41% 54.36% NA
VI/Aromatic  96 78.10% 1.00% 0.00% 20.83% NA
Intermediate  90 37.80% 14.40% 0.00% 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
vg1206419905 A -> DEL N N silent_mutation Average:84.395; most accessible tissue: Minghui63 flag leaf, score: 91.558 N N N N
vg1206419905 A -> G LOC_Os12g11820.1 upstream_gene_variant ; 3035.0bp to feature; MODIFIER silent_mutation Average:84.395; most accessible tissue: Minghui63 flag leaf, score: 91.558 N N N N
vg1206419905 A -> G LOC_Os12g11820-LOC_Os12g11830 intergenic_region ; MODIFIER silent_mutation Average:84.395; most accessible tissue: Minghui63 flag leaf, score: 91.558 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)
vg1206419905 A G 0.11 0.03 0.02 0.03 0.04 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1206419905 NA 4.93E-06 mr1555 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
vg1206419905 NA 3.06E-06 mr1330_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
vg1206419905 6.85E-06 NA mr1362_2 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