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Detailed information for vg0412916634:

Variant ID: vg0412916634 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 12916634
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATATCGACAGCAGCATGCGAACGTCGAAAGCAGCGCCATGGGTAAGCGCCCGCGGCAGCGGATCACTAGTCGTCAACAACGCTGCTCCGGTGGGTGCAAA[C/A]
GCACGCACCCAACTACACCCAGGTCGTCGTCTTCCTCACGCTCGCTGTCTTCGGCGCCGTCCTCCTGCTCCCGACTGGGCTCCCGCTCGCTGTCTCCATC

Reverse complement sequence

GATGGAGACAGCGAGCGGGAGCCCAGTCGGGAGCAGGAGGACGGCGCCGAAGACAGCGAGCGTGAGGAAGACGACGACCTGGGTGTAGTTGGGTGCGTGC[G/T]
TTTGCACCCACCGGAGCAGCGTTGTTGACGACTAGTGATCCGCTGCCGCGGGCGCTTACCCATGGCGCTGCTTTCGACGTTCGCATGCTGCTGTCGATAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.00% 0.10% 0.08% 53.81% NA
All Indica  2759 18.50% 0.20% 0.14% 81.12% NA
All Japonica  1512 98.10% 0.10% 0.00% 1.79% NA
Aus  269 10.40% 0.00% 0.00% 89.59% NA
Indica I  595 34.30% 0.00% 0.00% 65.71% NA
Indica II  465 27.30% 0.00% 0.22% 72.47% NA
Indica III  913 1.90% 0.30% 0.11% 97.70% NA
Indica Intermediate  786 20.70% 0.40% 0.25% 78.63% NA
Temperate Japonica  767 98.30% 0.10% 0.00% 1.56% NA
Tropical Japonica  504 99.00% 0.00% 0.00% 0.99% NA
Japonica Intermediate  241 95.90% 0.00% 0.00% 4.15% NA
VI/Aromatic  96 92.70% 0.00% 0.00% 7.29% NA
Intermediate  90 66.70% 0.00% 0.00% 33.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0412916634 C -> DEL N N silent_mutation Average:76.297; most accessible tissue: Zhenshan97 young leaf, score: 94.037 N N N N
vg0412916634 C -> A LOC_Os04g22800.1 intron_variant ; MODIFIER silent_mutation Average:76.297; most accessible tissue: Zhenshan97 young leaf, score: 94.037 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)
vg0412916634 C A -0.06 -0.02 -0.02 -0.01 -0.03 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0412916634 3.83E-06 NA mr1023_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
vg0412916634 NA 5.74E-20 mr1239_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
vg0412916634 7.89E-07 NA mr1489_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