Search for Variation information by Variation ID:

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

Detailed information for vg1000284248:

Variant ID: vg1000284248 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 284248
Reference Allele: GAlternative Allele: A,T
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGCTTCACTAGCTAGGTAGCTGCCTTACTGAATAGAACAGACTGTTTAATTCACGCTAAAATTAAAAGTTTGGTTGAAATTGAAACAATGTGACAGAAAA[G/A,T]
GGGTGTGTTTTCACGTTAAAATTGGAAATTTGGTTGAAATTGGAACGATGTGACAGAAAAGTTGGAATTTTATGTGTGTAGGAAATTTTTGATGTGATGG

Reverse complement sequence

CCATCACATCAAAAATTTCCTACACACATAAAATTCCAACTTTTCTGTCACATCGTTCCAATTTCAACCAAATTTCCAATTTTAACGTGAAAACACACCC[C/T,A]
TTTTCTGTCACATTGTTTCAATTTCAACCAAACTTTTAATTTTAGCGTGAATTAAACAGTCTGTTCTATTCAGTAAGGCAGCTACCTAGCTAGTGAAGCA

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 76.70% 21.60% 1.65% 0.00% T: 0.06%
All Indica  2759 87.40% 10.30% 2.32% 0.00% NA
All Japonica  1512 58.80% 40.50% 0.73% 0.00% NA
Aus  269 80.30% 18.60% 0.00% 0.00% T: 1.12%
Indica I  595 93.10% 0.70% 6.22% 0.00% NA
Indica II  465 94.00% 3.40% 2.58% 0.00% NA
Indica III  913 77.50% 21.70% 0.77% 0.00% NA
Indica Intermediate  786 90.60% 8.40% 1.02% 0.00% NA
Temperate Japonica  767 89.30% 10.40% 0.26% 0.00% NA
Tropical Japonica  504 12.90% 86.30% 0.79% 0.00% NA
Japonica Intermediate  241 57.70% 40.20% 2.07% 0.00% NA
VI/Aromatic  96 53.10% 46.90% 0.00% 0.00% NA
Intermediate  90 65.60% 31.10% 3.33% 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
vg1000284248 G -> T LOC_Os10g01460.1 upstream_gene_variant ; 1708.0bp to feature; MODIFIER silent_mutation Average:85.17; most accessible tissue: Zhenshan97 flower, score: 96.466 N N N N
vg1000284248 G -> T LOC_Os10g01470.1 downstream_gene_variant ; 453.0bp to feature; MODIFIER silent_mutation Average:85.17; most accessible tissue: Zhenshan97 flower, score: 96.466 N N N N
vg1000284248 G -> T LOC_Os10g01460-LOC_Os10g01470 intergenic_region ; MODIFIER silent_mutation Average:85.17; most accessible tissue: Zhenshan97 flower, score: 96.466 N N N N
vg1000284248 G -> A LOC_Os10g01460.1 upstream_gene_variant ; 1708.0bp to feature; MODIFIER silent_mutation Average:85.17; most accessible tissue: Zhenshan97 flower, score: 96.466 N N N N
vg1000284248 G -> A LOC_Os10g01470.1 downstream_gene_variant ; 453.0bp to feature; MODIFIER silent_mutation Average:85.17; most accessible tissue: Zhenshan97 flower, score: 96.466 N N N N
vg1000284248 G -> A LOC_Os10g01460-LOC_Os10g01470 intergenic_region ; MODIFIER silent_mutation Average:85.17; most accessible tissue: Zhenshan97 flower, score: 96.466 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)
vg1000284248 G A -0.01 -0.02 0.0 0.01 0.02 0.01
vg1000284248 G T -0.03 0.0 0.01 -0.01 0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1000284248 NA 9.72E-10 mr1016 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
vg1000284248 NA 1.13E-06 mr1300 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
vg1000284248 NA 1.30E-07 mr1305 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
vg1000284248 NA 2.37E-08 mr1310 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
vg1000284248 NA 2.70E-12 mr1580 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
vg1000284248 NA 2.89E-08 mr1586 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
vg1000284248 NA 3.04E-11 mr1825 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
vg1000284248 NA 3.60E-07 mr1870 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
vg1000284248 NA 2.01E-08 mr1926 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
vg1000284248 NA 5.11E-11 mr1055_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
vg1000284248 6.24E-06 3.52E-09 mr1305_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
vg1000284248 NA 5.51E-09 mr1310_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
vg1000284248 NA 4.43E-06 mr1409_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
vg1000284248 NA 7.95E-06 mr1585_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
vg1000284248 NA 4.74E-07 mr1959_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