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Detailed information for vg0622817682:

Variant ID: vg0622817682 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 22817682
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, T: 0.01, others allele: 0.00, population size: 90. )

Flanking Sequence (100 bp) in Reference Genome:


GGCCCGTTCGCAAAAATGGTTTTTTTGTAGTAGTGCCACTTCATCACGATTTCCGTCCTCTCCGTCACATTTTCCGCAGTCTCCGTCTTCATCTTTTCGT[C/T]
GTCCTCGTCTCGACGGCGGATGGGCAGCTGGAGGACGGCAGCACGGCGGCGGATGCAGGAGTCATCCGCATCCCTAGTCCCCGCATGAGACATTGCAGCA

Reverse complement sequence

TGCTGCAATGTCTCATGCGGGGACTAGGGATGCGGATGACTCCTGCATCCGCCGCCGTGCTGCCGTCCTCCAGCTGCCCATCCGCCGTCGAGACGAGGAC[G/A]
ACGAAAAGATGAAGACGGAGACTGCGGAAAATGTGACGGAGAGGACGGAAATCGTGATGAAGTGGCACTACTACAAAAAAACCATTTTTGCGAACGGGCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 64.90% 5.60% 5.40% 24.08% NA
All Indica  2759 76.50% 0.90% 1.49% 21.06% NA
All Japonica  1512 37.40% 15.70% 11.97% 34.92% NA
Aus  269 87.70% 0.00% 9.67% 2.60% NA
Indica I  595 86.10% 0.00% 0.17% 13.78% NA
Indica II  465 81.90% 1.90% 1.51% 14.62% NA
Indica III  913 70.40% 0.10% 1.42% 28.04% NA
Indica Intermediate  786 73.20% 2.00% 2.54% 22.26% NA
Temperate Japonica  767 43.50% 5.00% 19.04% 32.46% NA
Tropical Japonica  504 34.90% 32.30% 4.37% 28.37% NA
Japonica Intermediate  241 23.20% 14.90% 5.39% 56.43% NA
VI/Aromatic  96 96.90% 0.00% 1.04% 2.08% NA
Intermediate  90 67.80% 3.30% 6.67% 22.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0622817682 C -> T LOC_Os06g38500.1 upstream_gene_variant ; 149.0bp to feature; MODIFIER silent_mutation Average:44.27; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0622817682 C -> T LOC_Os06g38510.1 upstream_gene_variant ; 3435.0bp to feature; MODIFIER silent_mutation Average:44.27; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0622817682 C -> T LOC_Os06g38510.2 upstream_gene_variant ; 3435.0bp to feature; MODIFIER silent_mutation Average:44.27; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0622817682 C -> T LOC_Os06g38490.1 downstream_gene_variant ; 4413.0bp to feature; MODIFIER silent_mutation Average:44.27; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0622817682 C -> T LOC_Os06g38490-LOC_Os06g38500 intergenic_region ; MODIFIER silent_mutation Average:44.27; most accessible tissue: Zhenshan97 panicle, score: 90.061 N N N N
vg0622817682 C -> DEL N N silent_mutation Average:44.27; most accessible tissue: Zhenshan97 panicle, score: 90.061 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)
vg0622817682 C T 0.05 0.01 0.03 0.03 0.05 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0622817682 NA 5.85E-06 mr1590 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
vg0622817682 9.47E-07 9.46E-07 mr1590 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
vg0622817682 NA 9.35E-06 mr1648 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
vg0622817682 NA 5.14E-07 mr1582_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
vg0622817682 NA 7.92E-06 mr1786_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