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Detailed information for vg0802263992:

Variant ID: vg0802263992 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 2263992
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCCATTAGCGTGTGATTAATTAAGTATTAGTTATTTTTTAAAAAAATAAATCAATATGATTTTTTAAGCAACTTTTATAGAGAAACAGTTTTTAAAAAAT[G/A]
AACCGTTTAACAGTTTGGGAAACGTACGTATAAAAAACGAGGCGAGGGGGGTTGGGAAGGAGCTCTTACGAACGAGCTGGACATGACATGGTGCAGCTTG

Reverse complement sequence

CAAGCTGCACCATGTCATGTCCAGCTCGTTCGTAAGAGCTCCTTCCCAACCCCCCTCGCCTCGTTTTTTATACGTACGTTTCCCAAACTGTTAAACGGTT[C/T]
ATTTTTTAAAAACTGTTTCTCTATAAAAGTTGCTTAAAAAATCATATTGATTTATTTTTTTAAAAAATAACTAATACTTAATTAATCACACGCTAATGGA

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 91.00% 8.80% 0.11% 0.00% NA
All Indica  2759 89.60% 10.30% 0.11% 0.00% NA
All Japonica  1512 91.30% 8.50% 0.13% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 94.50% 5.50% 0.00% 0.00% NA
Indica II  465 96.80% 3.20% 0.00% 0.00% NA
Indica III  913 80.30% 19.50% 0.22% 0.00% NA
Indica Intermediate  786 92.60% 7.30% 0.13% 0.00% NA
Temperate Japonica  767 83.40% 16.30% 0.26% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 98.30% 1.70% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 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
vg0802263992 G -> A LOC_Os08g04550.1 upstream_gene_variant ; 1999.0bp to feature; MODIFIER silent_mutation Average:70.342; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0802263992 G -> A LOC_Os08g04560.1 downstream_gene_variant ; 4455.0bp to feature; MODIFIER silent_mutation Average:70.342; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0802263992 G -> A LOC_Os08g04540-LOC_Os08g04550 intergenic_region ; MODIFIER silent_mutation Average:70.342; most accessible tissue: Zhenshan97 panicle, score: 91.845 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)
vg0802263992 G A -0.05 0.0 0.01 0.06 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0802263992 NA 1.68E-08 mr1062 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
vg0802263992 NA 2.33E-06 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
vg0802263992 NA 3.90E-06 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
vg0802263992 2.00E-06 1.47E-06 mr1425 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
vg0802263992 NA 3.55E-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
vg0802263992 NA 1.84E-06 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
vg0802263992 NA 9.99E-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
vg0802263992 6.92E-06 5.60E-06 mr1425_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