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Detailed information for vg0727982897:

Variant ID: vg0727982897 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 27982897
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCTAGGCCTCTTTCCCTCTCGACAGCGTGCTGTCGTTGTAAGCGTTTTTACGTAACAAATTCCCCCTTTCTTAATGAAATTGGTCGACCGAATCTTTCGG[C/T]
CGACCCGGCAAAAAAAAAAAAAGTGTTCAGGCAACATGGCGATCACTGCAGTTAGATTACTGTGTTGATGTTTGACTCTCAACTTTTGGTCAATGCTATA

Reverse complement sequence

TATAGCATTGACCAAAAGTTGAGAGTCAAACATCAACACAGTAATCTAACTGCAGTGATCGCCATGTTGCCTGAACACTTTTTTTTTTTTTGCCGGGTCG[G/A]
CCGAAAGATTCGGTCGACCAATTTCATTAAGAAAGGGGGAATTTGTTACGTAAAAACGCTTACAACGACAGCACGCTGTCGAGAGGGAAAGAGGCCTAGC

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 51.60% 32.50% 5.01% 10.92% NA
All Indica  2759 23.20% 53.50% 6.89% 16.42% NA
All Japonica  1512 95.00% 2.20% 0.93% 1.85% NA
Aus  269 91.10% 0.00% 1.86% 7.06% NA
Indica I  595 36.00% 39.70% 9.41% 14.96% NA
Indica II  465 20.00% 57.60% 5.59% 16.77% NA
Indica III  913 13.50% 64.70% 5.59% 16.21% NA
Indica Intermediate  786 26.70% 48.50% 7.25% 17.56% NA
Temperate Japonica  767 97.90% 0.40% 0.65% 1.04% NA
Tropical Japonica  504 90.70% 5.60% 0.79% 2.98% NA
Japonica Intermediate  241 95.00% 0.80% 2.07% 2.07% NA
VI/Aromatic  96 59.40% 12.50% 18.75% 9.38% NA
Intermediate  90 64.40% 16.70% 11.11% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0727982897 C -> DEL N N silent_mutation Average:64.219; most accessible tissue: Zhenshan97 root, score: 87.466 N N N N
vg0727982897 C -> T LOC_Os07g46810.1 3_prime_UTR_variant ; 153.0bp to feature; MODIFIER silent_mutation Average:64.219; most accessible tissue: Zhenshan97 root, score: 87.466 N N N N
vg0727982897 C -> T LOC_Os07g46820.1 downstream_gene_variant ; 317.0bp to feature; MODIFIER silent_mutation Average:64.219; most accessible tissue: Zhenshan97 root, score: 87.466 N N N N
vg0727982897 C -> T LOC_Os07g46820.3 downstream_gene_variant ; 317.0bp to feature; MODIFIER silent_mutation Average:64.219; most accessible tissue: Zhenshan97 root, score: 87.466 N N N N
vg0727982897 C -> T LOC_Os07g46820.2 downstream_gene_variant ; 367.0bp to feature; MODIFIER silent_mutation Average:64.219; most accessible tissue: Zhenshan97 root, score: 87.466 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)
vg0727982897 C T 0.02 0.0 -0.01 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0727982897 NA 1.13E-06 mr1032 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
vg0727982897 NA 5.00E-08 mr1165 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
vg0727982897 NA 1.98E-07 mr1478 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
vg0727982897 NA 7.03E-10 mr1720 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
vg0727982897 1.09E-09 NA mr1457_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
vg0727982897 1.07E-10 5.98E-12 mr1457_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
vg0727982897 NA 6.94E-06 mr1497_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