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Detailed information for vg0609394618:

Variant ID: vg0609394618 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 9394618
Reference Allele: CAlternative Allele: G,T
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCCTAATCTACGTTATATGTAATATGAGAGAGTATGAGCCTCTGTGGCACGAATTGAGATCCTCTGCCTTTAAATACATCATGCCTTTTATTACTGACA[C/G,T]
GTGATCCCATATAGTTTATCGGTTTCACATGCCAATGACAAACACATTTTGAAGGTAGTGGAGCCTGATCCCCGTGGCACCCCTCTGGCATCATGCCAAA

Reverse complement sequence

TTTGGCATGATGCCAGAGGGGTGCCACGGGGATCAGGCTCCACTACCTTCAAAATGTGTTTGTCATTGGCATGTGAAACCGATAAACTATATGGGATCAC[G/C,A]
TGTCAGTAATAAAAGGCATGATGTATTTAAAGGCAGAGGATCTCAATTCGTGCCACAGAGGCTCATACTCTCTCATATTACATATAACGTAGATTAGGAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 58.60% 39.90% 0.80% 0.59% T: 0.08%
All Indica  2759 82.30% 16.90% 0.04% 0.69% T: 0.04%
All Japonica  1512 29.90% 67.30% 2.25% 0.40% T: 0.20%
Aus  269 1.50% 97.80% 0.37% 0.37% NA
Indica I  595 85.50% 14.30% 0.17% 0.00% NA
Indica II  465 81.90% 16.60% 0.00% 1.51% NA
Indica III  913 81.50% 18.10% 0.00% 0.33% T: 0.11%
Indica Intermediate  786 81.00% 17.80% 0.00% 1.15% NA
Temperate Japonica  767 54.40% 40.80% 4.04% 0.39% T: 0.39%
Tropical Japonica  504 2.00% 97.60% 0.00% 0.40% NA
Japonica Intermediate  241 10.40% 88.00% 1.24% 0.41% NA
VI/Aromatic  96 1.00% 95.80% 1.04% 2.08% NA
Intermediate  90 46.70% 52.20% 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
vg0609394618 C -> G LOC_Os06g16420.1 upstream_gene_variant ; 1512.0bp to feature; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> G LOC_Os06g16420.2 upstream_gene_variant ; 1512.0bp to feature; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> G LOC_Os06g16420.3 upstream_gene_variant ; 1531.0bp to feature; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> G LOC_Os06g16410-LOC_Os06g16420 intergenic_region ; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> T LOC_Os06g16420.1 upstream_gene_variant ; 1512.0bp to feature; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> T LOC_Os06g16420.2 upstream_gene_variant ; 1512.0bp to feature; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> T LOC_Os06g16420.3 upstream_gene_variant ; 1531.0bp to feature; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> T LOC_Os06g16410-LOC_Os06g16420 intergenic_region ; MODIFIER silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 N N N N
vg0609394618 C -> DEL N N silent_mutation Average:99.08; most accessible tissue: Minghui63 young leaf, score: 99.683 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)
vg0609394618 C G -0.02 -0.03 -0.04 -0.04 -0.04 -0.03
vg0609394618 C T -0.02 -0.03 -0.04 -0.04 -0.04 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0609394618 NA 3.97E-09 mr1047 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
vg0609394618 1.81E-07 1.06E-12 mr1090 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
vg0609394618 1.37E-07 4.57E-15 mr1211 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
vg0609394618 NA 2.57E-06 mr1221 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
vg0609394618 NA 8.08E-07 mr1583 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
vg0609394618 NA 9.34E-07 mr1796 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
vg0609394618 NA 2.16E-12 mr1047_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
vg0609394618 7.80E-08 3.52E-12 mr1090_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
vg0609394618 NA 2.39E-06 mr1121_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
vg0609394618 NA 5.20E-06 mr1161_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
vg0609394618 NA 2.06E-16 mr1189_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
vg0609394618 8.20E-09 9.97E-16 mr1211_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
vg0609394618 NA 4.13E-06 mr1346_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
vg0609394618 NA 1.02E-11 mr1570_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
vg0609394618 NA 8.37E-07 mr1583_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
vg0609394618 NA 2.41E-09 mr1642_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
vg0609394618 NA 5.70E-13 mr1734_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
vg0609394618 NA 1.43E-11 mr1782_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
vg0609394618 NA 2.48E-10 mr1834_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