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Detailed information for vg1209876262:

Variant ID: vg1209876262 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 9876262
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTGTGTTGTCTCTCTAATATCTTTCTCGTTAATTAATTTTCTAGACCATGTTTAGTGATAATGGGTAATTAACATGCTAATGGGCTCACGTTTGCTGCCT[A/G]
CCTAGCCTTGTTACGTAAAGCACCAGGGGAGGGGGAGTGTCGGATAGGGGGGTGTTGGCCCCCTCCGGCACCCCCGACAGCTTCGCCACTGCCGCCGACG

Reverse complement sequence

CGTCGGCGGCAGTGGCGAAGCTGTCGGGGGTGCCGGAGGGGGCCAACACCCCCCTATCCGACACTCCCCCTCCCCTGGTGCTTTACGTAACAAGGCTAGG[T/C]
AGGCAGCAAACGTGAGCCCATTAGCATGTTAATTACCCATTATCACTAAACATGGTCTAGAAAATTAATTAACGAGAAAGATATTAGAGAGACAACACAG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.10% 8.40% 2.20% 10.24% NA
All Indica  2759 79.40% 11.40% 2.17% 7.00% NA
All Japonica  1512 77.20% 4.40% 2.58% 15.87% NA
Aus  269 85.90% 3.00% 1.12% 10.04% NA
Indica I  595 95.30% 0.70% 0.34% 3.70% NA
Indica II  465 92.30% 3.40% 2.15% 2.15% NA
Indica III  913 61.00% 24.20% 3.50% 11.28% NA
Indica Intermediate  786 81.30% 9.30% 2.04% 7.38% NA
Temperate Japonica  767 81.60% 1.40% 3.13% 13.82% NA
Tropical Japonica  504 77.60% 3.00% 0.40% 19.05% NA
Japonica Intermediate  241 62.20% 16.60% 5.39% 15.77% NA
VI/Aromatic  96 80.20% 2.10% 1.04% 16.67% NA
Intermediate  90 81.10% 8.90% 1.11% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1209876262 A -> DEL LOC_Os12g17250.1 N frameshift_variant Average:92.949; most accessible tissue: Minghui63 flag leaf, score: 97.313 N N N N
vg1209876262 A -> G LOC_Os12g17250.1 synonymous_variant ; p.Gly54Gly; LOW synonymous_codon Average:92.949; most accessible tissue: Minghui63 flag leaf, score: 97.313 N N N N
vg1209876262 A -> G LOC_Os12g17250.1 synonymous_variant ; p.Gly54Gly; LOW nonsynonymous_codon ; G54S Average:92.949; most accessible tissue: Minghui63 flag leaf, score: 97.313 unknown unknown DELETERIOUS 0.00

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)
vg1209876262 A G 0.0 0.01 0.02 0.01 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1209876262 8.71E-06 NA mr1091 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
vg1209876262 2.76E-06 2.76E-06 mr1141 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
vg1209876262 5.69E-08 5.69E-08 mr1191 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
vg1209876262 7.46E-06 7.46E-06 mr1200 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
vg1209876262 8.96E-06 NA mr1517 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