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Detailed information for vg0724321079:

Variant ID: vg0724321079 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 24321079
Reference Allele: CAlternative Allele: G
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 126. )

Flanking Sequence (100 bp) in Reference Genome:


TTTGGTTACATTTATACGCTGCTAACAACGTTTCCGCCTCACCCTCTCACCCGCGGAGACACCACCTGTGACACTGACGGTGGGTCCCGGAACGACCCGT[C/G]
CCCACCTGTCTGTGAGCGAGGCGGTGGTGGCGTGTTACGAGAGTCGCAGCCGTCGATTCGGTCTGGGGATCGGGACACGTGTACGGCTGCGGAGGGAGGG

Reverse complement sequence

CCCTCCCTCCGCAGCCGTACACGTGTCCCGATCCCCAGACCGAATCGACGGCTGCGACTCTCGTAACACGCCACCACCGCCTCGCTCACAGACAGGTGGG[G/C]
ACGGGTCGTTCCGGGACCCACCGTCAGTGTCACAGGTGGTGTCTCCGCGGGTGAGAGGGTGAGGCGGAAACGTTGTTAGCAGCGTATAAATGTAACCAAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.60% 6.90% 0.55% 0.00% NA
All Indica  2759 99.60% 0.40% 0.07% 0.00% NA
All Japonica  1512 77.90% 20.50% 1.59% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.70% 0.20% 0.17% 0.00% NA
Indica II  465 98.30% 1.50% 0.22% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.30% 0.00% 0.00% NA
Temperate Japonica  767 59.10% 37.80% 3.13% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 92.10% 7.90% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 6.70% 0.00% 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
vg0724321079 C -> G LOC_Os07g40580.1 upstream_gene_variant ; 105.0bp to feature; MODIFIER silent_mutation Average:99.741; most accessible tissue: Minghui63 root, score: 99.89 N N N N
vg0724321079 C -> G LOC_Os07g40590.1 upstream_gene_variant ; 2308.0bp to feature; MODIFIER silent_mutation Average:99.741; most accessible tissue: Minghui63 root, score: 99.89 N N N N
vg0724321079 C -> G LOC_Os07g40580-LOC_Os07g40590 intergenic_region ; MODIFIER silent_mutation Average:99.741; most accessible tissue: Minghui63 root, score: 99.89 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)
vg0724321079 C G -0.03 -0.04 -0.02 -0.03 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0724321079 NA 4.68E-09 mr1002 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
vg0724321079 NA 1.61E-07 mr1002 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
vg0724321079 1.29E-10 NA mr1354 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
vg0724321079 2.75E-07 NA mr1354 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
vg0724321079 NA 9.19E-06 mr1826 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
vg0724321079 NA 5.30E-08 mr1977 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
vg0724321079 NA 1.63E-06 mr1977 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
vg0724321079 NA 1.80E-10 mr1002_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
vg0724321079 1.62E-14 NA mr1354_2 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
vg0724321079 3.87E-09 NA mr1354_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
vg0724321079 4.34E-06 NA mr1679_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
vg0724321079 5.99E-07 NA mr1829_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
vg0724321079 1.61E-06 NA mr1902_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