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Detailed information for vg0429956113:

Variant ID: vg0429956113 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 29956113
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.57, C: 0.43, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


TACCCGCCGGTCGCCGCCCGTCCCGGCGCCTCTTCTCCCCACCAGTCGCCACCTGTCGTGCCATCCTCCTCTCCGCCTGTCACACCGCCCCTTCTCCCCG[T/C]
CGGCCACCGCCCGTCACCCCGCCGCCCGTCGGCCGTTGCACTCGAGAGAGGAAAGTGGGGAGAGAGACGAAGAGAGGGGAGATGGGGAGTGAGATTGACA

Reverse complement sequence

TGTCAATCTCACTCCCCATCTCCCCTCTCTTCGTCTCTCTCCCCACTTTCCTCTCTCGAGTGCAACGGCCGACGGGCGGCGGGGTGACGGGCGGTGGCCG[A/G]
CGGGGAGAAGGGGCGGTGTGACAGGCGGAGAGGAGGATGGCACGACAGGTGGCGACTGGTGGGGAGAAGAGGCGCCGGGACGGGCGGCGACCGGCGGGTA

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 79.20% 20.70% 0.06% 0.00% NA
All Indica  2759 70.80% 29.10% 0.07% 0.00% NA
All Japonica  1512 99.70% 0.30% 0.00% 0.00% NA
Aus  269 45.00% 55.00% 0.00% 0.00% NA
Indica I  595 81.30% 18.50% 0.17% 0.00% NA
Indica II  465 35.50% 64.50% 0.00% 0.00% NA
Indica III  913 80.60% 19.40% 0.00% 0.00% NA
Indica Intermediate  786 72.30% 27.60% 0.13% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 95.80% 4.20% 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
vg0429956113 T -> C LOC_Os04g50196.1 upstream_gene_variant ; 2040.0bp to feature; MODIFIER silent_mutation Average:92.699; most accessible tissue: Zhenshan97 panicle, score: 98.022 N N N N
vg0429956113 T -> C LOC_Os04g50200.1 downstream_gene_variant ; 1993.0bp to feature; MODIFIER silent_mutation Average:92.699; most accessible tissue: Zhenshan97 panicle, score: 98.022 N N N N
vg0429956113 T -> C LOC_Os04g50196-LOC_Os04g50200 intergenic_region ; MODIFIER silent_mutation Average:92.699; most accessible tissue: Zhenshan97 panicle, score: 98.022 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)
vg0429956113 T C 0.05 0.04 0.05 0.05 0.05 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0429956113 NA 1.43E-07 mr1138 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
vg0429956113 2.53E-06 1.71E-13 mr1169 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
vg0429956113 1.38E-11 1.96E-21 mr1174 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
vg0429956113 1.58E-16 9.38E-29 mr1174 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
vg0429956113 1.40E-07 1.83E-10 mr1347 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
vg0429956113 1.56E-09 7.47E-16 mr1347 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
vg0429956113 NA 6.83E-09 mr1354 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
vg0429956113 3.06E-06 1.76E-09 mr1406 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
vg0429956113 NA 6.55E-08 mr1138_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
vg0429956113 9.76E-10 1.61E-17 mr1174_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
vg0429956113 1.12E-14 7.53E-29 mr1174_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
vg0429956113 8.11E-10 3.80E-12 mr1347_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
vg0429956113 3.07E-13 2.12E-26 mr1347_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
vg0429956113 NA 5.43E-09 mr1354_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
vg0429956113 NA 7.77E-12 mr1354_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
vg0429956113 8.13E-07 1.25E-09 mr1406_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