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Detailed information for vg1210723067:

Variant ID: vg1210723067 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 10723067
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGCTATCGATACTAGGAATCGGCAATAAGAAAAGGGGTAGCGCACAAGAGCTAAAGTAGATGGATTGTGAACATAGGTTTAGACAGGTTCAGGCCCTCT[C/T]
GGTGAGAGGCAATACCCTACTCCTATTTAGGGATTGGAATCTGCCAGGTGTTATATTGATATGACAGTCTTATTATTTGTTGTGCCATTGAGGGGCCTCC

Reverse complement sequence

GGAGGCCCCTCAATGGCACAACAAATAATAAGACTGTCATATCAATATAACACCTGGCAGATTCCAATCCCTAAATAGGAGTAGGGTATTGCCTCTCACC[G/A]
AGAGGGCCTGAACCTGTCTAAACCTATGTTCACAATCCATCTACTTTAGCTCTTGTGCGCTACCCCTTTTCTTATTGCCGATTCCTAGTATCGATAGCAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.70% 5.30% 0.00% 0.00% NA
All Indica  2759 99.20% 0.80% 0.00% 0.00% NA
All Japonica  1512 91.80% 8.20% 0.00% 0.00% NA
Aus  269 65.10% 34.90% 0.00% 0.00% NA
Indica I  595 99.30% 0.70% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 99.70% 0.30% 0.00% 0.00% NA
Indica Intermediate  786 98.10% 1.90% 0.00% 0.00% NA
Temperate Japonica  767 87.20% 12.80% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 89.60% 10.40% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 95.60% 4.40% 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
vg1210723067 C -> T LOC_Os12g18550.1 upstream_gene_variant ; 1128.0bp to feature; MODIFIER silent_mutation Average:68.645; most accessible tissue: Minghui63 flag leaf, score: 83.197 N N N N
vg1210723067 C -> T LOC_Os12g18540.1 downstream_gene_variant ; 1797.0bp to feature; MODIFIER silent_mutation Average:68.645; most accessible tissue: Minghui63 flag leaf, score: 83.197 N N N N
vg1210723067 C -> T LOC_Os12g18540-LOC_Os12g18550 intergenic_region ; MODIFIER silent_mutation Average:68.645; most accessible tissue: Minghui63 flag leaf, score: 83.197 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)
vg1210723067 C T 0.02 0.01 0.01 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1210723067 NA 4.05E-06 mr1280 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
vg1210723067 NA 6.83E-06 mr1648 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
vg1210723067 NA 1.98E-06 mr1652 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
vg1210723067 NA 9.45E-06 mr1164_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
vg1210723067 3.54E-06 NA mr1440_2 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
vg1210723067 NA 2.55E-09 mr1510_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
vg1210723067 NA 2.63E-09 mr1702_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
vg1210723067 NA 1.17E-06 mr1729_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
vg1210723067 NA 5.21E-06 mr1740_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
vg1210723067 NA 8.39E-06 mr1788_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