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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0521968750:

Variant ID: vg0521968750 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 21968750
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGGCCTTATTTTTTTTTGGAAGACTCCACCTGCTATATAGTACTCACTCCGTTTTGAAATGTTTAATACCGTTAACTTTTTAGCACATGTTTGACCGTTC[G/A]
TCTTATTCAAAAACTTTTGTGAAATATGTAAAATTATATGCCTACATCAAAATATATTTAACAATAAATCAAATGATAGGAAAAGAATTAATAATTACTT

Reverse complement sequence

AAGTAATTATTAATTCTTTTCCTATCATTTGATTTATTGTTAAATATATTTTGATGTAGGCATATAATTTTACATATTTCACAAAAGTTTTTGAATAAGA[C/T]
GAACGGTCAAACATGTGCTAAAAAGTTAACGGTATTAAACATTTCAAAACGGAGTGAGTACTATATAGCAGGTGGAGTCTTCCAAAAAAAAATAAGGCCT

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 60.20% 39.30% 0.23% 0.25% NA
All Indica  2759 37.80% 61.50% 0.33% 0.40% NA
All Japonica  1512 99.50% 0.50% 0.00% 0.00% NA
Aus  269 56.50% 43.50% 0.00% 0.00% NA
Indica I  595 54.10% 45.00% 0.34% 0.50% NA
Indica II  465 15.10% 83.90% 0.86% 0.22% NA
Indica III  913 42.60% 56.50% 0.22% 0.66% NA
Indica Intermediate  786 33.20% 66.50% 0.13% 0.13% NA
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 57.80% 38.90% 2.22% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0521968750 G -> DEL N N silent_mutation Average:77.342; most accessible tissue: Minghui63 root, score: 91.021 N N N N
vg0521968750 G -> A LOC_Os05g37520.2 upstream_gene_variant ; 2738.0bp to feature; MODIFIER silent_mutation Average:77.342; most accessible tissue: Minghui63 root, score: 91.021 N N N N
vg0521968750 G -> A LOC_Os05g37530.1 upstream_gene_variant ; 1633.0bp to feature; MODIFIER silent_mutation Average:77.342; most accessible tissue: Minghui63 root, score: 91.021 N N N N
vg0521968750 G -> A LOC_Os05g37520.1 upstream_gene_variant ; 2738.0bp to feature; MODIFIER silent_mutation Average:77.342; most accessible tissue: Minghui63 root, score: 91.021 N N N N
vg0521968750 G -> A LOC_Os05g37520-LOC_Os05g37530 intergenic_region ; MODIFIER silent_mutation Average:77.342; most accessible tissue: Minghui63 root, score: 91.021 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)
vg0521968750 G A 0.01 0.01 0.0 0.01 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0521968750 NA 3.91E-07 mr1044 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
vg0521968750 NA 3.83E-06 mr1115 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
vg0521968750 NA 4.53E-06 mr1195 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
vg0521968750 NA 3.92E-06 mr1304 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
vg0521968750 NA 3.18E-06 mr1352 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
vg0521968750 NA 9.59E-06 mr1407 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
vg0521968750 NA 6.49E-06 mr1624 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
vg0521968750 NA 2.93E-06 mr1735 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
vg0521968750 6.50E-06 4.70E-07 mr1737 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
vg0521968750 NA 3.54E-06 mr1788 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
vg0521968750 NA 2.69E-06 mr1832 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
vg0521968750 NA 7.06E-06 mr1992 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