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Detailed information for vg0721129130:

Variant ID: vg0721129130 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 21129130
Reference Allele: GAlternative Allele: C,T
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGAGCCCCAGGTTCCTGATGAACACGCAGAACGCGAGCGCGCCGGCGGAGGTGTTCGACGCCGCCGTCGCCACCCTCCTCAACGCCACCAGCAGCTACGC[G/C,T]
GCGGAGAACTCGTCCAGGCGGTTCGCCACGGGGGAGGAGGCCTTCGATGCCGCCGCCGCTACTCCGACCATCTACGGGCTGTCCCAGTGCACGCCGGACA

Reverse complement sequence

TGTCCGGCGTGCACTGGGACAGCCCGTAGATGGTCGGAGTAGCGGCGGCGGCATCGAAGGCCTCCTCCCCCGTGGCGAACCGCCTGGACGAGTTCTCCGC[C/G,A]
GCGTAGCTGCTGGTGGCGTTGAGGAGGGTGGCGACGGCGGCGTCGAACACCTCCGCCGGCGCGCTCGCGTTCTGCGTGTTCATCAGGAACCTGGGGCTCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 65.20% 34.60% 0.04% 0.00% T: 0.15%
All Indica  2759 89.10% 10.70% 0.04% 0.00% T: 0.25%
All Japonica  1512 16.80% 83.10% 0.07% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 98.70% 1.20% 0.17% 0.00% NA
Indica II  465 84.50% 15.50% 0.00% 0.00% NA
Indica III  913 82.90% 16.50% 0.00% 0.00% T: 0.55%
Indica Intermediate  786 91.60% 8.10% 0.00% 0.00% T: 0.25%
Temperate Japonica  767 1.40% 98.40% 0.13% 0.00% NA
Tropical Japonica  504 40.90% 59.10% 0.00% 0.00% NA
Japonica Intermediate  241 15.40% 84.60% 0.00% 0.00% NA
VI/Aromatic  96 49.00% 51.00% 0.00% 0.00% NA
Intermediate  90 61.10% 38.90% 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
vg0721129130 G -> T LOC_Os07g35300.1 synonymous_variant ; p.Ala173Ala; LOW synonymous_codon Average:84.919; most accessible tissue: Minghui63 panicle, score: 92.666 N N N N
vg0721129130 G -> C LOC_Os07g35300.1 synonymous_variant ; p.Ala173Ala; LOW synonymous_codon Average:84.919; most accessible tissue: Minghui63 panicle, score: 92.666 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)
vg0721129130 G C 0.0 0.0 0.0 -0.01 -0.01 0.0
vg0721129130 G T -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0721129130 1.43E-06 2.18E-06 mr1730 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
vg0721129130 NA 1.10E-06 mr1798_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