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Detailed information for vg1003461178:

Variant ID: vg1003461178 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 3461178
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.73, C: 0.28, others allele: 0.00, population size: 51. )

Flanking Sequence (100 bp) in Reference Genome:


AGCCCAAACCTGTAATCTGCCTGAGACGTGTTTGGTTGCTATCCTGAGAATTTTAGCCTGAGGATTCTTGCCTGACGAAACTTGCCTGAGTCAGGCGTAG[T/C]
AAAAAGGTCGCCTGAGCAAGCCATGGCATTTCCACCAACATGCCTGAGTAGAATCACCTCTCTTCTACCACTACTTCTCCTCACTGTACCACCGTAGGGT

Reverse complement sequence

ACCCTACGGTGGTACAGTGAGGAGAAGTAGTGGTAGAAGAGAGGTGATTCTACTCAGGCATGTTGGTGGAAATGCCATGGCTTGCTCAGGCGACCTTTTT[A/G]
CTACGCCTGACTCAGGCAAGTTTCGTCAGGCAAGAATCCTCAGGCTAAAATTCTCAGGATAGCAACCAAACACGTCTCAGGCAGATTACAGGTTTGGGCT

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 46.40% 0.10% 2.98% 50.53% NA
All Indica  2759 22.40% 0.20% 3.01% 74.37% NA
All Japonica  1512 97.90% 0.00% 0.13% 1.92% NA
Aus  269 5.20% 0.40% 7.81% 86.62% NA
Indica I  595 25.00% 0.30% 1.34% 73.28% NA
Indica II  465 16.10% 0.20% 0.43% 83.23% NA
Indica III  913 26.10% 0.10% 6.46% 67.36% NA
Indica Intermediate  786 20.00% 0.10% 1.78% 78.12% NA
Temperate Japonica  767 99.20% 0.00% 0.13% 0.65% NA
Tropical Japonica  504 96.00% 0.00% 0.00% 3.97% NA
Japonica Intermediate  241 97.90% 0.00% 0.41% 1.66% NA
VI/Aromatic  96 35.40% 0.00% 32.29% 32.29% NA
Intermediate  90 47.80% 0.00% 4.44% 47.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1003461178 T -> C LOC_Os10g06680.1 upstream_gene_variant ; 1650.0bp to feature; MODIFIER silent_mutation Average:65.861; most accessible tissue: Zhenshan97 panicle, score: 95.016 N N N N
vg1003461178 T -> C LOC_Os10g06660.1 downstream_gene_variant ; 3557.0bp to feature; MODIFIER silent_mutation Average:65.861; most accessible tissue: Zhenshan97 panicle, score: 95.016 N N N N
vg1003461178 T -> C LOC_Os10g06670.1 downstream_gene_variant ; 781.0bp to feature; MODIFIER silent_mutation Average:65.861; most accessible tissue: Zhenshan97 panicle, score: 95.016 N N N N
vg1003461178 T -> C LOC_Os10g06690.1 downstream_gene_variant ; 3221.0bp to feature; MODIFIER silent_mutation Average:65.861; most accessible tissue: Zhenshan97 panicle, score: 95.016 N N N N
vg1003461178 T -> C LOC_Os10g06670-LOC_Os10g06680 intergenic_region ; MODIFIER silent_mutation Average:65.861; most accessible tissue: Zhenshan97 panicle, score: 95.016 N N N N
vg1003461178 T -> DEL N N silent_mutation Average:65.861; most accessible tissue: Zhenshan97 panicle, score: 95.016 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)
vg1003461178 T C -0.02 -0.02 -0.01 -0.01 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1003461178 NA 7.39E-06 mr1538 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
vg1003461178 3.12E-06 3.05E-07 mr1547 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
vg1003461178 NA 3.48E-06 mr1646 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
vg1003461178 2.23E-10 NA mr1709 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
vg1003461178 2.30E-10 3.73E-11 mr1709 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
vg1003461178 NA 2.29E-07 mr1779 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
vg1003461178 NA 9.49E-08 mr1538_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
vg1003461178 2.04E-06 NA mr1547_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
vg1003461178 1.30E-07 6.90E-10 mr1547_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
vg1003461178 8.27E-15 NA mr1709_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
vg1003461178 6.75E-14 1.03E-11 mr1709_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