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Detailed information for vg0139807295:

Variant ID: vg0139807295 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 39807295
Reference Allele: TAlternative Allele: A
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAAAAACAAACCTAAAACTAGATACTATCATATATTCTAGTGCAACAAATTATAGACATACTTCTACTAGTATATATCACGTTCAGTTTTAGATTTTTTT[T/A]
AAAAAACATATGTAGAGTAGTCGAATGCAAGATTGCAATGCAGGGATCAGGTCACCAGGACAACGGATGGGCCATGCACCCATCGCCGTCGCCGGCCGCG

Reverse complement sequence

CGCGGCCGGCGACGGCGATGGGTGCATGGCCCATCCGTTGTCCTGGTGACCTGATCCCTGCATTGCAATCTTGCATTCGACTACTCTACATATGTTTTTT[A/T]
AAAAAAATCTAAAACTGAACGTGATATATACTAGTAGAAGTATGTCTATAATTTGTTGCACTAGAATATATGATAGTATCTAGTTTTAGGTTTGTTTTTT

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 88.80% 11.10% 0.06% 0.00% NA
All Indica  2759 88.70% 11.20% 0.11% 0.00% NA
All Japonica  1512 99.50% 0.50% 0.00% 0.00% NA
Aus  269 50.20% 49.80% 0.00% 0.00% NA
Indica I  595 93.30% 6.70% 0.00% 0.00% NA
Indica II  465 98.50% 1.50% 0.00% 0.00% NA
Indica III  913 82.90% 17.10% 0.00% 0.00% NA
Indica Intermediate  786 86.30% 13.40% 0.38% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 97.50% 2.50% 0.00% 0.00% NA
VI/Aromatic  96 30.20% 69.80% 0.00% 0.00% NA
Intermediate  90 91.10% 8.90% 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
vg0139807295 T -> A LOC_Os01g68500.1 upstream_gene_variant ; 4778.0bp to feature; MODIFIER silent_mutation Average:91.3; most accessible tissue: Zhenshan97 panicle, score: 96.414 N N N N
vg0139807295 T -> A LOC_Os01g68510.1 upstream_gene_variant ; 3008.0bp to feature; MODIFIER silent_mutation Average:91.3; most accessible tissue: Zhenshan97 panicle, score: 96.414 N N N N
vg0139807295 T -> A LOC_Os01g68524.1 downstream_gene_variant ; 4427.0bp to feature; MODIFIER silent_mutation Average:91.3; most accessible tissue: Zhenshan97 panicle, score: 96.414 N N N N
vg0139807295 T -> A LOC_Os01g68524.2 downstream_gene_variant ; 4427.0bp to feature; MODIFIER silent_mutation Average:91.3; most accessible tissue: Zhenshan97 panicle, score: 96.414 N N N N
vg0139807295 T -> A LOC_Os01g68500-LOC_Os01g68510 intergenic_region ; MODIFIER silent_mutation Average:91.3; most accessible tissue: Zhenshan97 panicle, score: 96.414 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)
vg0139807295 T A 0.03 -0.03 -0.02 0.0 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0139807295 NA 2.39E-06 mr1094 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
vg0139807295 NA 4.88E-07 mr1111 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
vg0139807295 NA 7.59E-07 mr1144 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
vg0139807295 NA 4.67E-06 mr1798 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
vg0139807295 NA 2.75E-07 mr1094_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
vg0139807295 NA 6.37E-08 mr1096_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
vg0139807295 NA 1.49E-07 mr1111_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
vg0139807295 NA 1.78E-07 mr1121_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
vg0139807295 1.66E-06 NA mr1123_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
vg0139807295 NA 1.42E-08 mr1144_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
vg0139807295 1.17E-07 NA mr1242_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
vg0139807295 NA 4.19E-10 mr1798_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