Search for Variation information by Variation ID:

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

Detailed information for vg0102967856:

Variant ID: vg0102967856 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 2967856
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAATACAAAGGGAGAAAGGGGCGTCCTAATGGGCGACTGGTCGCGCCCACGCCCAGGCGCGCGACCACCCCTCAGTCCTCTAGTCTCTACTATAGTTACT[A/G]
GTACTACTACTACACTAGAACTAGTGTAATACTGTACTAATGTAGTAGTATATGTATATACATGTATATAAACTATGTGTACGTATAAAAAACCTAAAAA

Reverse complement sequence

TTTTTAGGTTTTTTATACGTACACATAGTTTATATACATGTATATACATATACTACTACATTAGTACAGTATTACACTAGTTCTAGTGTAGTAGTAGTAC[T/C]
AGTAACTATAGTAGAGACTAGAGGACTGAGGGGTGGTCGCGCGCCTGGGCGTGGGCGCGACCAGTCGCCCATTAGGACGCCCCTTTCTCCCTTTGTATTT

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 75.30% 24.70% 0.00% 0.00% NA
All Indica  2759 96.20% 3.80% 0.00% 0.00% NA
All Japonica  1512 53.00% 47.00% 0.00% 0.00% NA
Aus  269 14.50% 85.50% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 95.10% 4.90% 0.00% 0.00% NA
Indica III  913 94.20% 5.80% 0.00% 0.00% NA
Indica Intermediate  786 96.60% 3.40% 0.00% 0.00% NA
Temperate Japonica  767 26.60% 73.40% 0.00% 0.00% NA
Tropical Japonica  504 93.10% 6.90% 0.00% 0.00% NA
Japonica Intermediate  241 53.10% 46.90% 0.00% 0.00% NA
VI/Aromatic  96 2.10% 97.90% 0.00% 0.00% NA
Intermediate  90 67.80% 32.20% 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
vg0102967856 A -> G LOC_Os01g06240.1 upstream_gene_variant ; 2939.0bp to feature; MODIFIER silent_mutation Average:73.502; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0102967856 A -> G LOC_Os01g06260.1 upstream_gene_variant ; 1298.0bp to feature; MODIFIER silent_mutation Average:73.502; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0102967856 A -> G LOC_Os01g06250.1 downstream_gene_variant ; 510.0bp to feature; MODIFIER silent_mutation Average:73.502; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0102967856 A -> G LOC_Os01g06270.1 downstream_gene_variant ; 3269.0bp to feature; MODIFIER silent_mutation Average:73.502; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0102967856 A -> G LOC_Os01g06270.2 downstream_gene_variant ; 3269.0bp to feature; MODIFIER silent_mutation Average:73.502; most accessible tissue: Zhenshan97 panicle, score: 91.845 N N N N
vg0102967856 A -> G LOC_Os01g06250-LOC_Os01g06260 intergenic_region ; MODIFIER silent_mutation Average:73.502; 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)
vg0102967856 A G -0.1 -0.05 -0.03 0.0 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0102967856 NA 7.26E-07 mr1415 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
vg0102967856 NA 1.07E-08 mr1539 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
vg0102967856 NA 3.83E-12 mr1540 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
vg0102967856 NA 7.26E-07 mr1567 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
vg0102967856 NA 3.79E-13 mr1732 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
vg0102967856 NA 8.23E-10 mr1769 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
vg0102967856 NA 1.24E-07 mr1042_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
vg0102967856 NA 9.83E-08 mr1347_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
vg0102967856 NA 1.77E-06 mr1354_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
vg0102967856 NA 2.44E-08 mr1502_2 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
vg0102967856 NA 2.72E-07 mr1567_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
vg0102967856 NA 7.77E-06 mr1621_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
vg0102967856 NA 9.64E-09 mr1871_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