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Detailed information for vg0142487665:

Variant ID: vg0142487665 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 42487665
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCGATTTGGGCTCGATTTCACCGCCACAGCCCACTCAACCCCGATCGAGGTCGAACCAAACAAGGAAGAAATAAGTTCATATGAGGTCTCTTAACTTGTC[G/A]
ACGAATCCGAATCCGATTTTCGTCCCTCAACCAGAAAACCAGACACACTGGGTCCCTCAACTATTAAAACCGGTGCAGATTAGGTCCTTGTGGTTTTAAG

Reverse complement sequence

CTTAAAACCACAAGGACCTAATCTGCACCGGTTTTAATAGTTGAGGGACCCAGTGTGTCTGGTTTTCTGGTTGAGGGACGAAAATCGGATTCGGATTCGT[C/T]
GACAAGTTAAGAGACCTCATATGAACTTATTTCTTCCTTGTTTGGTTCGACCTCGATCGGGGTTGAGTGGGCTGTGGCGGTGAAATCGAGCCCAAATCGA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 93.20% 4.10% 0.08% 2.56% NA
All Indica  2759 98.70% 0.70% 0.04% 0.51% NA
All Japonica  1512 81.60% 11.40% 0.20% 6.81% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.20% 0.80% 0.00% 0.00% NA
Indica II  465 98.50% 0.60% 0.22% 0.65% NA
Indica III  913 98.40% 0.50% 0.00% 1.10% NA
Indica Intermediate  786 99.00% 0.90% 0.00% 0.13% NA
Temperate Japonica  767 97.50% 2.30% 0.00% 0.13% NA
Tropical Japonica  504 53.80% 26.20% 0.60% 19.44% NA
Japonica Intermediate  241 89.20% 9.10% 0.00% 1.66% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 93.30% 3.30% 0.00% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0142487665 G -> A LOC_Os01g73300.1 upstream_gene_variant ; 4293.0bp to feature; MODIFIER silent_mutation Average:98.325; most accessible tissue: Zhenshan97 panicle, score: 99.926 N N N N
vg0142487665 G -> A LOC_Os01g73310.1 upstream_gene_variant ; 214.0bp to feature; MODIFIER silent_mutation Average:98.325; most accessible tissue: Zhenshan97 panicle, score: 99.926 N N N N
vg0142487665 G -> A LOC_Os01g73310-LOC_Os01g73320 intergenic_region ; MODIFIER silent_mutation Average:98.325; most accessible tissue: Zhenshan97 panicle, score: 99.926 N N N N
vg0142487665 G -> DEL N N silent_mutation Average:98.325; most accessible tissue: Zhenshan97 panicle, score: 99.926 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)
vg0142487665 G A 0.01 0.01 0.0 0.01 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0142487665 NA 4.71E-06 mr1221_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
vg0142487665 NA 7.06E-07 mr1275_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
vg0142487665 3.29E-06 NA mr1533_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
vg0142487665 NA 8.84E-07 mr1574_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
vg0142487665 NA 6.18E-08 mr1659_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
vg0142487665 3.39E-06 6.75E-12 mr1806_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
vg0142487665 NA 5.75E-09 mr1835_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