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Detailed information for vg0909930571:

Variant ID: vg0909930571 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 9930571
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 300. )

Flanking Sequence (100 bp) in Reference Genome:


TCCTTTAGTCAGGACCCAGATGTTAGTAGCTAATTAAGGGTTGAATTCCATTATCAAATATCAGTTGTTTAGTGTTGTCATGATGCATGTCTTGGTAAAT[C/T]
AATGTCCACATAACTTATCGATGCATTCGAGCCGATCTTTTTTTTTCAATCCTGAAACCTCAATGGTGTTGGTTCCTAAACCGGTGCCTTTCGATTCCCC

Reverse complement sequence

GGGGAATCGAAAGGCACCGGTTTAGGAACCAACACCATTGAGGTTTCAGGATTGAAAAAAAAAGATCGGCTCGAATGCATCGATAAGTTATGTGGACATT[G/A]
ATTTACCAAGACATGCATCATGACAACACTAAACAACTGATATTTGATAATGGAATTCAACCCTTAATTAGCTACTAACATCTGGGTCCTGACTAAAGGA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.70% 25.00% 0.04% 0.32% NA
All Indica  2759 79.90% 19.60% 0.04% 0.47% NA
All Japonica  1512 67.90% 32.00% 0.07% 0.07% NA
Aus  269 57.20% 42.80% 0.00% 0.00% NA
Indica I  595 87.40% 12.10% 0.00% 0.50% NA
Indica II  465 82.60% 16.60% 0.00% 0.86% NA
Indica III  913 75.40% 24.50% 0.00% 0.11% NA
Indica Intermediate  786 77.90% 21.40% 0.13% 0.64% NA
Temperate Japonica  767 95.00% 5.00% 0.00% 0.00% NA
Tropical Japonica  504 21.60% 78.00% 0.20% 0.20% NA
Japonica Intermediate  241 78.00% 22.00% 0.00% 0.00% NA
VI/Aromatic  96 80.20% 19.80% 0.00% 0.00% NA
Intermediate  90 74.40% 24.40% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0909930571 C -> DEL N N silent_mutation Average:63.536; most accessible tissue: Minghui63 flower, score: 80.339 N N N N
vg0909930571 C -> T LOC_Os09g16260.2 upstream_gene_variant ; 3856.0bp to feature; MODIFIER silent_mutation Average:63.536; most accessible tissue: Minghui63 flower, score: 80.339 N N N N
vg0909930571 C -> T LOC_Os09g16280.1 upstream_gene_variant ; 2704.0bp to feature; MODIFIER silent_mutation Average:63.536; most accessible tissue: Minghui63 flower, score: 80.339 N N N N
vg0909930571 C -> T LOC_Os09g16260.1 upstream_gene_variant ; 3856.0bp to feature; MODIFIER silent_mutation Average:63.536; most accessible tissue: Minghui63 flower, score: 80.339 N N N N
vg0909930571 C -> T LOC_Os09g16270.1 downstream_gene_variant ; 1788.0bp to feature; MODIFIER silent_mutation Average:63.536; most accessible tissue: Minghui63 flower, score: 80.339 N N N N
vg0909930571 C -> T LOC_Os09g16270-LOC_Os09g16280 intergenic_region ; MODIFIER silent_mutation Average:63.536; most accessible tissue: Minghui63 flower, score: 80.339 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)
vg0909930571 C T 0.03 0.01 0.01 0.03 0.05 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0909930571 NA 6.48E-06 mr1157 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
vg0909930571 NA 1.68E-08 mr1248 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
vg0909930571 NA 9.19E-07 mr1328 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
vg0909930571 NA 5.55E-06 mr1338 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
vg0909930571 NA 3.97E-07 mr1425 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
vg0909930571 NA 1.19E-06 mr1446 Jap_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
vg0909930571 NA 4.77E-07 mr1530 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
vg0909930571 NA 2.76E-06 mr1642 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
vg0909930571 NA 2.04E-13 mr1769 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
vg0909930571 NA 9.44E-06 mr1903 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
vg0909930571 NA 4.58E-06 mr1498_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