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Detailed information for vg0729408499:

Variant ID: vg0729408499 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 29408499
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TATACGTCTATATATACGGCGCGGTTATGTTTGAAGGTTTTTGTCTGGGTTGAGCTGATCGAGCATGTCTGTCAAGTAATATCCGTTCAGATTATGCCCA[G/A]
TTTAATTACGACTTACTTAGCTTAATTAGTACAGTGGTTTCGATCATCCATGTCACCCTTTTTCTTTATTTATATATGGGCTATTGTTTTTTTCCTCGAT

Reverse complement sequence

ATCGAGGAAAAAAACAATAGCCCATATATAAATAAAGAAAAAGGGTGACATGGATGATCGAAACCACTGTACTAATTAAGCTAAGTAAGTCGTAATTAAA[C/T]
TGGGCATAATCTGAACGGATATTACTTGACAGACATGCTCGATCAGCTCAACCCAGACAAAAACCTTCAAACATAACCGCGCCGTATATATAGACGTATA

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 62.10% 37.70% 0.11% 0.00% NA
All Indica  2759 92.40% 7.50% 0.11% 0.00% NA
All Japonica  1512 12.80% 87.20% 0.00% 0.00% NA
Aus  269 55.80% 44.20% 0.00% 0.00% NA
Indica I  595 98.50% 1.50% 0.00% 0.00% NA
Indica II  465 97.00% 3.00% 0.00% 0.00% NA
Indica III  913 88.60% 11.20% 0.22% 0.00% NA
Indica Intermediate  786 89.40% 10.40% 0.13% 0.00% NA
Temperate Japonica  767 0.90% 99.10% 0.00% 0.00% NA
Tropical Japonica  504 21.80% 78.20% 0.00% 0.00% NA
Japonica Intermediate  241 32.00% 68.00% 0.00% 0.00% NA
VI/Aromatic  96 4.20% 95.80% 0.00% 0.00% NA
Intermediate  90 44.40% 53.30% 2.22% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0729408499 G -> A LOC_Os07g49114.1 downstream_gene_variant ; 3206.0bp to feature; MODIFIER silent_mutation Average:85.181; most accessible tissue: Minghui63 root, score: 93.779 N N N N
vg0729408499 G -> A LOC_Os07g49114-LOC_Os07g49120 intergenic_region ; MODIFIER silent_mutation Average:85.181; most accessible tissue: Minghui63 root, score: 93.779 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)
vg0729408499 G A 0.02 0.0 -0.01 -0.02 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0729408499 NA 1.53E-06 mr1522 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
vg0729408499 7.12E-07 7.12E-07 mr1877_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