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Detailed information for vg0600576807:

Variant ID: vg0600576807 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 576807
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTTGATATGAGTATTCTATTAATACTATTAAGCCCTAGAACAGGATGTTACACCCTTACCCCCTTAAGAGAGATCGACGCCCCCGTCGATCAACCACAGG[C/T]
CAGGAACGTCCTCTCTTGGCCACGTCCATGTGTCCAGTGTTAGCGCATGTGCCATGCTGTGTAACCACTCCCGGTCTACACCAGCCATGCGCACCATGCC

Reverse complement sequence

GGCATGGTGCGCATGGCTGGTGTAGACCGGGAGTGGTTACACAGCATGGCACATGCGCTAACACTGGACACATGGACGTGGCCAAGAGAGGACGTTCCTG[G/A]
CCTGTGGTTGATCGACGGGGGCGTCGATCTCTCTTAAGGGGGTAAGGGTGTAACATCCTGTTCTAGGGCTTAATAGTATTAATAGAATACTCATATCAAC

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 61.70% 36.90% 1.42% 0.00% NA
All Indica  2759 90.60% 7.40% 2.03% 0.00% NA
All Japonica  1512 3.60% 96.30% 0.13% 0.00% NA
Aus  269 90.00% 7.40% 2.60% 0.00% NA
Indica I  595 93.10% 3.50% 3.36% 0.00% NA
Indica II  465 79.60% 18.50% 1.94% 0.00% NA
Indica III  913 97.40% 2.10% 0.55% 0.00% NA
Indica Intermediate  786 87.40% 9.80% 2.80% 0.00% NA
Temperate Japonica  767 0.30% 99.70% 0.00% 0.00% NA
Tropical Japonica  504 8.50% 91.10% 0.40% 0.00% NA
Japonica Intermediate  241 3.70% 96.30% 0.00% 0.00% NA
VI/Aromatic  96 85.40% 14.60% 0.00% 0.00% NA
Intermediate  90 40.00% 57.80% 2.22% 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
vg0600576807 C -> T LOC_Os06g02010.1 upstream_gene_variant ; 2485.0bp to feature; MODIFIER silent_mutation Average:44.88; most accessible tissue: Minghui63 young leaf, score: 89.337 N N N N
vg0600576807 C -> T LOC_Os06g02019.1 upstream_gene_variant ; 3858.0bp to feature; MODIFIER silent_mutation Average:44.88; most accessible tissue: Minghui63 young leaf, score: 89.337 N N N N
vg0600576807 C -> T LOC_Os06g02010-LOC_Os06g02019 intergenic_region ; MODIFIER silent_mutation Average:44.88; most accessible tissue: Minghui63 young leaf, score: 89.337 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)
vg0600576807 C T -0.02 -0.02 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0600576807 NA 3.77E-50 mr1141 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
vg0600576807 NA 6.51E-25 mr1631 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
vg0600576807 NA 1.24E-62 mr1141_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
vg0600576807 NA 8.80E-11 mr1141_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
vg0600576807 8.59E-06 NA mr1218_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
vg0600576807 1.79E-06 NA mr1218_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
vg0600576807 NA 6.23E-41 mr1243_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
vg0600576807 NA 9.10E-25 mr1403_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
vg0600576807 NA 3.01E-30 mr1423_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
vg0600576807 NA 2.55E-06 mr1423_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
vg0600576807 NA 9.78E-59 mr1599_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