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Detailed information for vg1012891999:

Variant ID: vg1012891999 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 12891999
Reference Allele: AAlternative Allele: C
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCTTCAAAACAAATCTACAAAGATTAGTTTAGCTCTAGCTTCTTGAAAGTAAATACCGAAATGAACTCCTTACGTAAAAAAAAAAGAAATATATATACAA[A/C]
GATAATAAGCGGATGGATGTGGTGGCGAGAGAAACCTCTAGAGCCATGCAAAAAAAATGCTTAATTAGCTTCCCATGAACGCCTTGCGGATCTCGGCGAC

Reverse complement sequence

GTCGCCGAGATCCGCAAGGCGTTCATGGGAAGCTAATTAAGCATTTTTTTTGCATGGCTCTAGAGGTTTCTCTCGCCACCACATCCATCCGCTTATTATC[T/G]
TTGTATATATATTTCTTTTTTTTTTACGTAAGGAGTTCATTTCGGTATTTACTTTCAAGAAGCTAGAGCTAAACTAATCTTTGTAGATTTGTTTTGAAGA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 85.90% 2.80% 6.67% 4.59% NA
All Indica  2759 78.30% 4.00% 10.08% 7.65% NA
All Japonica  1512 97.80% 0.50% 1.46% 0.20% NA
Aus  269 93.70% 3.70% 2.60% 0.00% NA
Indica I  595 74.10% 2.70% 16.81% 6.39% NA
Indica II  465 76.60% 4.70% 8.60% 10.11% NA
Indica III  913 82.70% 3.70% 6.46% 7.12% NA
Indica Intermediate  786 77.20% 5.00% 10.05% 7.76% NA
Temperate Japonica  767 99.30% 0.10% 0.39% 0.13% NA
Tropical Japonica  504 96.20% 0.80% 2.78% 0.20% NA
Japonica Intermediate  241 96.30% 1.20% 2.07% 0.41% NA
VI/Aromatic  96 90.60% 4.20% 4.17% 1.04% NA
Intermediate  90 92.20% 1.10% 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
vg1012891999 A -> C LOC_Os10g25040.2 3_prime_UTR_variant ; 65.0bp to feature; MODIFIER silent_mutation Average:94.018; most accessible tissue: Minghui63 young leaf, score: 96.882 N N N N
vg1012891999 A -> C LOC_Os10g25040.1 3_prime_UTR_variant ; 65.0bp to feature; MODIFIER silent_mutation Average:94.018; most accessible tissue: Minghui63 young leaf, score: 96.882 N N N N
vg1012891999 A -> C LOC_Os10g25030.1 upstream_gene_variant ; 3697.0bp to feature; MODIFIER silent_mutation Average:94.018; most accessible tissue: Minghui63 young leaf, score: 96.882 N N N N
vg1012891999 A -> DEL N N silent_mutation Average:94.018; most accessible tissue: Minghui63 young leaf, score: 96.882 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)
vg1012891999 A C 0.0 0.0 -0.01 -0.01 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1012891999 4.04E-08 1.77E-07 mr1305_2 Ind_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
vg1012891999 9.84E-06 NA mr1480_2 Ind_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
vg1012891999 9.71E-06 NA mr1765_2 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
vg1012891999 1.47E-07 1.47E-07 mr1765_2 Ind_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