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Detailed information for vg0334419989:

Variant ID: vg0334419989 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 34419989
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGATTTTAAGACACAATATGTGTATAACAGGTGGGACCATATGTTAATAGTATAGTAATAGTATAGTAAGTAACTATTGTATGAATTGGCTATTAGATC[G/A]
GCTATAAATAAATTGGAGTTAGTAGTAGGCTATACTATTGAACTTGCTCTTAGCATACCAAAATCACCGGACTAACAACAGTGGACAGCAGTTGGTCGGT

Reverse complement sequence

ACCGACCAACTGCTGTCCACTGTTGTTAGTCCGGTGATTTTGGTATGCTAAGAGCAAGTTCAATAGTATAGCCTACTACTAACTCCAATTTATTTATAGC[C/T]
GATCTAATAGCCAATTCATACAATAGTTACTTACTATACTATTACTATACTATTAACATATGGTCCCACCTGTTATACACATATTGTGTCTTAAAATCCA

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 93.10% 4.40% 0.61% 1.84% NA
All Indica  2759 88.80% 7.40% 1.05% 2.83% NA
All Japonica  1512 99.90% 0.00% 0.00% 0.07% NA
Aus  269 99.30% 0.00% 0.00% 0.74% NA
Indica I  595 99.80% 0.00% 0.00% 0.17% NA
Indica II  465 87.10% 11.00% 1.51% 0.43% NA
Indica III  913 81.30% 11.80% 1.20% 5.70% NA
Indica Intermediate  786 90.10% 5.60% 1.40% 2.93% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 95.80% 0.00% 0.00% 4.17% NA
Intermediate  90 90.00% 7.80% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0334419989 G -> A LOC_Os03g60560.1 upstream_gene_variant ; 4191.0bp to feature; MODIFIER silent_mutation Average:93.751; most accessible tissue: Minghui63 flower, score: 98.207 N N N N
vg0334419989 G -> A LOC_Os03g60550.1 downstream_gene_variant ; 826.0bp to feature; MODIFIER silent_mutation Average:93.751; most accessible tissue: Minghui63 flower, score: 98.207 N N N N
vg0334419989 G -> A LOC_Os03g60550.2 downstream_gene_variant ; 826.0bp to feature; MODIFIER silent_mutation Average:93.751; most accessible tissue: Minghui63 flower, score: 98.207 N N N N
vg0334419989 G -> A LOC_Os03g60550.3 downstream_gene_variant ; 826.0bp to feature; MODIFIER silent_mutation Average:93.751; most accessible tissue: Minghui63 flower, score: 98.207 N N N N
vg0334419989 G -> A LOC_Os03g60550-LOC_Os03g60560 intergenic_region ; MODIFIER silent_mutation Average:93.751; most accessible tissue: Minghui63 flower, score: 98.207 N N N N
vg0334419989 G -> DEL N N silent_mutation Average:93.751; most accessible tissue: Minghui63 flower, score: 98.207 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)
vg0334419989 G A 0.01 0.01 0.01 0.0 0.0 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0334419989 NA 4.11E-06 mr1113_2 Ind_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
vg0334419989 NA 9.29E-06 mr1114_2 Ind_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
vg0334419989 NA 2.40E-06 mr1117_2 Ind_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
vg0334419989 NA 1.64E-06 mr1119_2 Ind_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
vg0334419989 NA 1.36E-06 mr1120_2 Ind_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
vg0334419989 1.94E-06 2.44E-06 mr1240_2 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
vg0334419989 NA 6.37E-06 mr1247_2 Ind_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