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Detailed information for vg0617827445:

Variant ID: vg0617827445 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 17827445
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGCAGTGTCTGTGACCGCATAGCGTGTTGCGTAACCAAAAAAATCTCCAAGCATGCGTCGTCACGGGACATGGTAAGGAAAGGCAGATCAAAAGCAAGCA[G/A]
CTGCTTGCTTGAAGTGCCGATGATGATAAAAATCCCCACTCACTTTTTGTTTAACTCTGCTGCAGTTCAGGGCCCCTAGCGACCACTCTGTACTTTGGTC

Reverse complement sequence

GACCAAAGTACAGAGTGGTCGCTAGGGGCCCTGAACTGCAGCAGAGTTAAACAAAAAGTGAGTGGGGATTTTTATCATCATCGGCACTTCAAGCAAGCAG[C/T]
TGCTTGCTTTTGATCTGCCTTTCCTTACCATGTCCCGTGACGACGCATGCTTGGAGATTTTTTTGGTTACGCAACACGCTATGCGGTCACAGACACTGCA

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 78.50% 7.40% 9.61% 4.42% NA
All Indica  2759 77.70% 1.10% 14.06% 7.14% NA
All Japonica  1512 77.90% 20.90% 0.93% 0.26% NA
Aus  269 81.80% 0.00% 15.61% 2.60% NA
Indica I  595 75.80% 0.20% 20.50% 3.53% NA
Indica II  465 69.70% 2.40% 20.43% 7.53% NA
Indica III  913 82.30% 0.40% 7.45% 9.86% NA
Indica Intermediate  786 78.60% 1.80% 13.10% 6.49% NA
Temperate Japonica  767 97.40% 1.60% 0.78% 0.26% NA
Tropical Japonica  504 47.80% 51.20% 0.60% 0.40% NA
Japonica Intermediate  241 78.80% 19.10% 2.07% 0.00% NA
VI/Aromatic  96 96.90% 0.00% 2.08% 1.04% NA
Intermediate  90 85.60% 5.60% 8.89% 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
vg0617827445 G -> A LOC_Os06g30730.1 upstream_gene_variant ; 2630.0bp to feature; MODIFIER silent_mutation Average:83.974; most accessible tissue: Zhenshan97 panicle, score: 97.869 N N N N
vg0617827445 G -> A LOC_Os06g30730-LOC_Os06g30740 intergenic_region ; MODIFIER silent_mutation Average:83.974; most accessible tissue: Zhenshan97 panicle, score: 97.869 N N N N
vg0617827445 G -> DEL N N silent_mutation Average:83.974; most accessible tissue: Zhenshan97 panicle, score: 97.869 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)
vg0617827445 G A -0.05 0.01 -0.02 -0.08 -0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0617827445 NA 1.05E-07 mr1229 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
vg0617827445 NA 8.98E-24 mr1301 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
vg0617827445 NA 1.25E-15 mr1410 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
vg0617827445 7.62E-06 8.01E-11 mr1993 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
vg0617827445 NA 1.20E-07 mr1993 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
vg0617827445 NA 7.59E-24 mr1301_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
vg0617827445 NA 1.00E-14 mr1410_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
vg0617827445 NA 5.65E-11 mr1993_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