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Detailed information for vg0630178255:

Variant ID: vg0630178255 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 30178255
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.67, C: 0.33, others allele: 0.00, population size: 182. )

Flanking Sequence (100 bp) in Reference Genome:


GATTCATTTTCTAGATTTTACAACTACAGCTTCTGAGAATATTGAAAAGCTAGGTTTTTCAGCTTCTAGCTTCTGGTTCACTTTCTGGATTCTACAACTA[C/T]
AACTTCTTAGAATATGAACCAAAAGATATACTGTTTGGGGGAGCTTCTAATTCTGAGAGAAGTTGCAGCAGCTAGAAGCTCTCCTAAAAATAGCCTCTAT

Reverse complement sequence

ATAGAGGCTATTTTTAGGAGAGCTTCTAGCTGCTGCAACTTCTCTCAGAATTAGAAGCTCCCCCAAACAGTATATCTTTTGGTTCATATTCTAAGAAGTT[G/A]
TAGTTGTAGAATCCAGAAAGTGAACCAGAAGCTAGAAGCTGAAAAACCTAGCTTTTCAATATTCTCAGAAGCTGTAGTTGTAAAATCTAGAAAATGAATC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 70.50% 28.00% 0.40% 1.12% NA
All Indica  2759 95.40% 4.50% 0.11% 0.00% NA
All Japonica  1512 31.90% 63.80% 0.99% 3.37% NA
Aus  269 47.20% 52.80% 0.00% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 95.70% 4.10% 0.22% 0.00% NA
Indica III  913 94.30% 5.70% 0.00% 0.00% NA
Indica Intermediate  786 93.40% 6.40% 0.25% 0.00% NA
Temperate Japonica  767 7.30% 92.30% 0.00% 0.39% NA
Tropical Japonica  504 76.20% 19.80% 1.39% 2.58% NA
Japonica Intermediate  241 17.40% 64.70% 3.32% 14.52% NA
VI/Aromatic  96 19.80% 80.20% 0.00% 0.00% NA
Intermediate  90 76.70% 20.00% 1.11% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0630178255 C -> T LOC_Os06g49840.1 upstream_gene_variant ; 259.0bp to feature; MODIFIER silent_mutation Average:73.548; most accessible tissue: Zhenshan97 flower, score: 99.638 N N N N
vg0630178255 C -> T LOC_Os06g49840.2 upstream_gene_variant ; 189.0bp to feature; MODIFIER silent_mutation Average:73.548; most accessible tissue: Zhenshan97 flower, score: 99.638 N N N N
vg0630178255 C -> T LOC_Os06g49850.1 downstream_gene_variant ; 1861.0bp to feature; MODIFIER silent_mutation Average:73.548; most accessible tissue: Zhenshan97 flower, score: 99.638 N N N N
vg0630178255 C -> T LOC_Os06g49850.2 downstream_gene_variant ; 1826.0bp to feature; MODIFIER silent_mutation Average:73.548; most accessible tissue: Zhenshan97 flower, score: 99.638 N N N N
vg0630178255 C -> T LOC_Os06g49840-LOC_Os06g49850 intergenic_region ; MODIFIER silent_mutation Average:73.548; most accessible tissue: Zhenshan97 flower, score: 99.638 N N N N
vg0630178255 C -> DEL N N silent_mutation Average:73.548; most accessible tissue: Zhenshan97 flower, score: 99.638 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)
vg0630178255 C T 0.03 0.03 0.01 0.05 0.05 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0630178255 NA 8.34E-08 mr1174 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
vg0630178255 NA 3.65E-09 mr1364 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
vg0630178255 NA 9.03E-07 mr1382 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
vg0630178255 NA 6.18E-22 mr1422 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
vg0630178255 NA 4.38E-08 mr1422 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
vg0630178255 NA 1.27E-08 mr1443 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
vg0630178255 NA 8.37E-06 mr1578 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
vg0630178255 NA 4.63E-07 mr1584 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
vg0630178255 NA 1.43E-16 mr1593 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
vg0630178255 NA 5.09E-08 mr1696 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
vg0630178255 NA 2.05E-08 mr1364_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
vg0630178255 NA 1.14E-06 mr1423_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
vg0630178255 NA 4.76E-08 mr1696_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
vg0630178255 NA 1.98E-09 mr1705_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
vg0630178255 NA 5.01E-16 mr1807_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
vg0630178255 NA 1.48E-07 mr1807_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