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Detailed information for vg0111955442:

Variant ID: vg0111955442 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 11955442
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, others allele: 0.00, population size: 117. )

Flanking Sequence (100 bp) in Reference Genome:


GCGGCGGGTGGTGGCGCATCGACGGCGCGCGAGGGGTCATCGGCGACGACGGGGGAGGGGAAGCATCGGGGTTAGGGTTTGGGTTGGGGAAGGGGGCACA[C/T]
CGCGGCGTCGATCTCATTTTGTTGGGAGGAGGAAGGAAGAGGAATTTTTTTTTTGTAAAGAAAAATTAATCATTATATTCGAGTTGTAGGACGCTAATGT

Reverse complement sequence

ACATTAGCGTCCTACAACTCGAATATAATGATTAATTTTTCTTTACAAAAAAAAAATTCCTCTTCCTTCCTCCTCCCAACAAAATGAGATCGACGCCGCG[G/A]
TGTGCCCCCTTCCCCAACCCAAACCCTAACCCCGATGCTTCCCCTCCCCCGTCGTCGCCGATGACCCCTCGCGCGCCGTCGATGCGCCACCACCCGCCGC

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 91.40% 8.00% 0.66% 0.00% NA
All Indica  2759 99.50% 0.40% 0.11% 0.00% NA
All Japonica  1512 74.30% 23.80% 1.85% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.50% 0.10% 0.38% 0.00% NA
Temperate Japonica  767 54.10% 43.50% 2.35% 0.00% NA
Tropical Japonica  504 98.00% 1.80% 0.20% 0.00% NA
Japonica Intermediate  241 89.20% 7.10% 3.73% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 6.70% 0.00% 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
vg0111955442 C -> T LOC_Os01g21410.1 5_prime_UTR_premature_start_codon_gain_variant ; LOW silent_mutation Average:97.14; most accessible tissue: Zhenshan97 flag leaf, score: 98.592 N N N N
vg0111955442 C -> T LOC_Os01g21410.1 5_prime_UTR_variant ; 61.0bp to feature; MODIFIER silent_mutation Average:97.14; most accessible tissue: Zhenshan97 flag leaf, score: 98.592 N N N N
vg0111955442 C -> T LOC_Os01g21420.1 upstream_gene_variant ; 1801.0bp to feature; MODIFIER silent_mutation Average:97.14; most accessible tissue: Zhenshan97 flag leaf, score: 98.592 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)
vg0111955442 C T -0.09 -0.09 -0.06 -0.07 -0.06 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0111955442 NA 8.42E-14 Spikelet_length All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0111955442 NA 4.72E-08 mr1163 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
vg0111955442 NA 1.22E-06 mr1183 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
vg0111955442 NA 4.30E-09 mr1486 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
vg0111955442 NA 5.46E-06 mr1503 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
vg0111955442 NA 2.25E-07 mr1617 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
vg0111955442 NA 3.73E-07 mr1763 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
vg0111955442 NA 8.36E-09 mr1010_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
vg0111955442 NA 1.27E-06 mr1011_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
vg0111955442 NA 3.36E-06 mr1164_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
vg0111955442 4.77E-06 NA mr1827_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