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Detailed information for vg0224274714:

Variant ID: vg0224274714 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24274714
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTGTCTAGGTAGGATTTATTTCGCTGGACAGCTTTTTTTCAACGAAGCAGAGTAGTAAATTTTTCTCTCAACTTTTTTTTTTGAGGGAAATTTCTCTCAA[C/T]
TTTTGGCGACTGGTCCATCCACCGGACAACAGTTTGATGAAAAGCACTGTTATTTAGTGGACGATATTAATTAGGCAGAAGCTCAATTAGGGTGCAAAAC

Reverse complement sequence

GTTTTGCACCCTAATTGAGCTTCTGCCTAATTAATATCGTCCACTAAATAACAGTGCTTTTCATCAAACTGTTGTCCGGTGGATGGACCAGTCGCCAAAA[G/A]
TTGAGAGAAATTTCCCTCAAAAAAAAAAGTTGAGAGAAAAATTTACTACTCTGCTTCGTTGAAAAAAAGCTGTCCAGCGAAATAAATCCTACCTAGACAC

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 93.80% 3.40% 0.38% 2.39% NA
All Indica  2759 95.10% 0.10% 0.65% 4.10% NA
All Japonica  1512 89.90% 10.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.50% 0.00% 0.17% 0.34% NA
Indica II  465 91.00% 0.00% 1.29% 7.74% NA
Indica III  913 93.30% 0.20% 0.77% 5.70% NA
Indica Intermediate  786 96.30% 0.30% 0.51% 2.93% NA
Temperate Japonica  767 86.80% 13.20% 0.00% 0.00% NA
Tropical Japonica  504 98.20% 1.80% 0.00% 0.00% NA
Japonica Intermediate  241 82.60% 17.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 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
vg0224274714 C -> T LOC_Os02g40090.1 upstream_gene_variant ; 1039.0bp to feature; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> T LOC_Os02g40100.1 upstream_gene_variant ; 1594.0bp to feature; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> T LOC_Os02g40090.4 upstream_gene_variant ; 1189.0bp to feature; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> T LOC_Os02g40090.5 upstream_gene_variant ; 1153.0bp to feature; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> T LOC_Os02g40090.3 upstream_gene_variant ; 1040.0bp to feature; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> T LOC_Os02g40080.1 downstream_gene_variant ; 4693.0bp to feature; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> T LOC_Os02g40090-LOC_Os02g40100 intergenic_region ; MODIFIER silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 N N N N
vg0224274714 C -> DEL N N silent_mutation Average:77.926; most accessible tissue: Callus, score: 92.764 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)
vg0224274714 C T -0.05 0.01 0.03 -0.03 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224274714 NA 3.26E-07 mr1210 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
vg0224274714 NA 8.44E-06 mr1220 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
vg0224274714 NA 6.14E-06 mr1277 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
vg0224274714 NA 5.02E-07 mr1305 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
vg0224274714 8.10E-06 8.10E-06 mr1346 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
vg0224274714 3.52E-06 NA mr1379 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
vg0224274714 7.12E-06 7.12E-06 mr1412 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
vg0224274714 8.81E-06 3.85E-08 mr1585 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
vg0224274714 NA 4.59E-07 mr1586 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
vg0224274714 4.24E-06 2.06E-07 mr1765 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
vg0224274714 5.46E-06 8.37E-07 mr1816 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
vg0224274714 NA 1.22E-06 mr1870 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