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Detailed information for vg0501750373:

Variant ID: vg0501750373 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 1750373
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTGTGTATATTGCTCTATATTTTATACTACTAACTAGAGTATATCTTTACCACGATGTATCCATGCGTGACATTTATCCTACTTGGGGCAAGGCATGGGC[G/A]
CCATGGCCTTTATTTATACCCATCATATCGTCCTAAAATATATAATACCGTTGATTTTTAACGTGATGTTGACTATCTATTTTATTAAAAAATATATAAA

Reverse complement sequence

TTTATATATTTTTTAATAAAATAGATAGTCAACATCACGTTAAAAATCAACGGTATTATATATTTTAGGACGATATGATGGGTATAAATAAAGGCCATGG[C/T]
GCCCATGCCTTGCCCCAAGTAGGATAAATGTCACGCATGGATACATCGTGGTAAAGATATACTCTAGTTAGTAGTATAAAATATAGAGCAATATACACAA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.10% 21.70% 0.17% 0.00% NA
All Indica  2759 99.20% 0.80% 0.04% 0.00% NA
All Japonica  1512 35.80% 63.80% 0.46% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 97.60% 2.40% 0.00% 0.00% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 99.00% 0.90% 0.13% 0.00% NA
Temperate Japonica  767 14.60% 84.90% 0.52% 0.00% NA
Tropical Japonica  504 63.50% 36.30% 0.20% 0.00% NA
Japonica Intermediate  241 45.20% 53.90% 0.83% 0.00% NA
VI/Aromatic  96 84.40% 15.60% 0.00% 0.00% NA
Intermediate  90 72.20% 27.80% 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
vg0501750373 G -> A LOC_Os05g03910.1 upstream_gene_variant ; 1523.0bp to feature; MODIFIER silent_mutation Average:60.096; most accessible tissue: Zhenshan97 root, score: 87.822 N N N N
vg0501750373 G -> A LOC_Os05g03920.1 upstream_gene_variant ; 2015.0bp to feature; MODIFIER silent_mutation Average:60.096; most accessible tissue: Zhenshan97 root, score: 87.822 N N N N
vg0501750373 G -> A LOC_Os05g03910-LOC_Os05g03920 intergenic_region ; MODIFIER silent_mutation Average:60.096; most accessible tissue: Zhenshan97 root, score: 87.822 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)
vg0501750373 G A 0.01 0.01 0.0 -0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0501750373 9.81E-06 2.23E-24 mr1024_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
vg0501750373 NA 1.12E-07 mr1030_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
vg0501750373 NA 6.14E-06 mr1071_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
vg0501750373 NA 3.77E-06 mr1080_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
vg0501750373 NA 1.36E-14 mr1162_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
vg0501750373 NA 9.30E-08 mr1203_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
vg0501750373 NA 2.61E-07 mr1519_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
vg0501750373 2.23E-06 2.23E-06 mr1542_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
vg0501750373 NA 6.24E-08 mr1748_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
vg0501750373 NA 7.65E-07 mr1865_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