Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg0604425979:

Variant ID: vg0604425979 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 4425979
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTATCTCTCTCCATGAGAAGTTACGTTAAAAGCCAAATAGCTCTCAAAATAGCTATTGGATCCAAACAACTCAGAGTTATTTTATTGGAGGACTATTTA[C/T]
TTGTGCTAAAAAATAGCTCTCAAAATAACTCTTGGCTAGTTCTCTAAACAGGGCTATTAATTGATGGAGTCATACACCCACGACTTTATTCATGAGGCCA

Reverse complement sequence

TGGCCTCATGAATAAAGTCGTGGGTGTATGACTCCATCAATTAATAGCCCTGTTTAGAGAACTAGCCAAGAGTTATTTTGAGAGCTATTTTTTAGCACAA[G/A]
TAAATAGTCCTCCAATAAAATAACTCTGAGTTGTTTGGATCCAATAGCTATTTTGAGAGCTATTTGGCTTTTAACGTAACTTCTCATGGAGAGAGATAAA

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 85.70% 7.20% 0.87% 6.22% NA
All Indica  2759 94.20% 0.50% 0.69% 4.60% NA
All Japonica  1512 78.60% 21.00% 0.20% 0.20% NA
Aus  269 34.60% 0.00% 7.06% 58.36% NA
Indica I  595 90.40% 0.20% 0.50% 8.91% NA
Indica II  465 97.40% 2.40% 0.00% 0.22% NA
Indica III  913 98.40% 0.10% 0.99% 0.55% NA
Indica Intermediate  786 90.20% 0.30% 0.89% 8.65% NA
Temperate Japonica  767 68.40% 31.30% 0.26% 0.00% NA
Tropical Japonica  504 94.60% 5.20% 0.00% 0.20% NA
Japonica Intermediate  241 77.20% 21.60% 0.41% 0.83% NA
VI/Aromatic  96 89.60% 5.20% 0.00% 5.21% NA
Intermediate  90 93.30% 4.40% 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
vg0604425979 C -> T LOC_Os06g08840.1 upstream_gene_variant ; 2695.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.3 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.4 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.2 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.5 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.6 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.7 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08840.8 upstream_gene_variant ; 2687.0bp to feature; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> T LOC_Os06g08830-LOC_Os06g08840 intergenic_region ; MODIFIER silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0604425979 C -> DEL N N silent_mutation Average:86.795; most accessible tissue: Minghui63 panicle, score: 94.638 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)
vg0604425979 C T 0.01 -0.01 0.0 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0604425979 1.09E-06 9.61E-20 Awn_length All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0604425979 NA 6.35E-12 Awn_length Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0604425979 1.29E-11 NA mr1137 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
vg0604425979 2.11E-09 NA mr1137 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
vg0604425979 1.30E-10 NA mr1617 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
vg0604425979 1.19E-08 4.33E-08 mr1617 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
vg0604425979 3.60E-17 NA mr1137_2 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
vg0604425979 2.01E-11 1.05E-10 mr1137_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
vg0604425979 2.11E-09 NA mr1617_2 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
vg0604425979 8.90E-07 1.96E-07 mr1617_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
vg0604425979 NA 9.85E-06 mr1723_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