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Detailed information for vg1207119817:

Variant ID: vg1207119817 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 7119817
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCTTCGTCTTCCTGTGTCATCTCGTCCTCTCGGACCGGTGCCCACGACGACGGCGCCGTCGCCAAACTGCGACGCGGCGACGATCCCCGTCCCCATCCCC[A/G]
CCGCCGCCATCCCCGTCCCCAGCCGCGTGCCATTCCGTGTCCCTGTCGGCTCCCATCGCGACGACAACAGCAGTTGTAGGAAGCTGTACGAGCCCTGGCT

Reverse complement sequence

AGCCAGGGCTCGTACAGCTTCCTACAACTGCTGTTGTCGTCGCGATGGGAGCCGACAGGGACACGGAATGGCACGCGGCTGGGGACGGGGATGGCGGCGG[T/C]
GGGGATGGGGACGGGGATCGTCGCCGCGTCGCAGTTTGGCGACGGCGCCGTCGTCGTGGGCACCGGTCCGAGAGGACGAGATGACACAGGAAGACGAAGG

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 86.40% 6.10% 2.48% 4.99% NA
All Indica  2759 99.70% 0.20% 0.04% 0.04% NA
All Japonica  1512 58.70% 18.50% 7.41% 15.34% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 99.60% 0.20% 0.00% 0.22% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 99.60% 0.30% 0.13% 0.00% NA
Temperate Japonica  767 43.40% 24.50% 10.04% 22.03% NA
Tropical Japonica  504 86.50% 5.80% 3.37% 4.37% NA
Japonica Intermediate  241 49.40% 26.10% 7.47% 17.01% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 91.10% 2.20% 4.44% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1207119817 A -> DEL LOC_Os12g12870.1 N frameshift_variant Average:71.654; most accessible tissue: Zhenshan97 flag leaf, score: 89.423 N N N N
vg1207119817 A -> G LOC_Os12g12870.1 missense_variant ; p.Thr132Ala; MODERATE nonsynonymous_codon ; T132A Average:71.654; most accessible tissue: Zhenshan97 flag leaf, score: 89.423 unknown unknown TOLERATED 1.00

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)
vg1207119817 A G 0.01 0.0 -0.01 0.0 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1207119817 1.31E-06 1.31E-06 mr1452_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
vg1207119817 NA 5.87E-07 mr1549_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
vg1207119817 NA 6.15E-06 mr1576_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
vg1207119817 4.72E-06 9.76E-07 mr1821_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