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Detailed information for vg0516197972:

Variant ID: vg0516197972 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 16197972
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCGAGGGCTGCCGGTGATGGAAACGCCGCTCCCGAGGCCCGATGGTGGCGGATCCGCTCTCCCGAGGCCCGCTGGCGCCAGATCTGCTCTACCGCTACTC[C/T]
CGTGCACCATCTGTCATTCTCATCGTTAAGGTTGTCACCCCTTCCACCGCACCGCCCACTGCTGAGCACCGCTACATCCCTTCACCACTGCCCGCCGAAT

Reverse complement sequence

ATTCGGCGGGCAGTGGTGAAGGGATGTAGCGGTGCTCAGCAGTGGGCGGTGCGGTGGAAGGGGTGACAACCTTAACGATGAGAATGACAGATGGTGCACG[G/A]
GAGTAGCGGTAGAGCAGATCTGGCGCCAGCGGGCCTCGGGAGAGCGGATCCGCCACCATCGGGCCTCGGGAGCGGCGTTTCCATCACCGGCAGCCCTCGG

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 83.60% 14.30% 0.17% 1.95% NA
All Indica  2759 99.30% 0.70% 0.00% 0.00% NA
All Japonica  1512 51.50% 41.90% 0.46% 6.08% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 98.30% 1.70% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 99.60% 0.40% 0.00% 0.00% NA
Temperate Japonica  767 16.00% 75.40% 0.78% 7.82% NA
Tropical Japonica  504 94.60% 1.40% 0.00% 3.97% NA
Japonica Intermediate  241 74.30% 20.30% 0.41% 4.98% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 76.70% 22.20% 1.11% 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
vg0516197972 C -> T LOC_Os05g27800.1 downstream_gene_variant ; 4795.0bp to feature; MODIFIER silent_mutation Average:70.118; most accessible tissue: Zhenshan97 young leaf, score: 86.542 N N N N
vg0516197972 C -> T LOC_Os05g27790-LOC_Os05g27800 intergenic_region ; MODIFIER silent_mutation Average:70.118; most accessible tissue: Zhenshan97 young leaf, score: 86.542 N N N N
vg0516197972 C -> DEL N N silent_mutation Average:70.118; most accessible tissue: Zhenshan97 young leaf, score: 86.542 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)
vg0516197972 C T -0.03 -0.03 -0.02 -0.02 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0516197972 NA 4.18E-22 mr1300 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
vg0516197972 NA 6.62E-36 mr1310 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
vg0516197972 NA 6.16E-06 mr1445 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
vg0516197972 NA 1.28E-06 mr1639 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
vg0516197972 NA 1.21E-09 mr1959 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
vg0516197972 2.17E-06 6.15E-38 mr1310_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
vg0516197972 NA 3.70E-06 mr1582_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
vg0516197972 NA 1.70E-17 mr1959_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