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Detailed information for vg0140818805:

Variant ID: vg0140818805 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 40818805
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCCCGATTCCTAAACTCGCAAATCAACCATCAAGTCCTCAAACTTGTTCGACTATGTCATCCCGGTCCCTAAGCTTATAGATCACTCGTTTAGGTCCTC[C/T]
AACTTGTTTAGTTGTGTCACCCCGGACCCTAAACAGGACAGTCTAAAAACTTTTGTATCAAAAAATAATTCATAACTTTTTCATGTGAACTCTAATGAAG

Reverse complement sequence

CTTCATTAGAGTTCACATGAAAAAGTTATGAATTATTTTTTGATACAAAAGTTTTTAGACTGTCCTGTTTAGGGTCCGGGGTGACACAACTAAACAAGTT[G/A]
GAGGACCTAAACGAGTGATCTATAAGCTTAGGGACCGGGATGACATAGTCGAACAAGTTTGAGGACTTGATGGTTGATTTGCGAGTTTAGGAATCGGGAT

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 93.50% 0.70% 1.06% 4.74% NA
All Indica  2759 96.40% 0.00% 0.69% 2.94% NA
All Japonica  1512 96.60% 2.10% 0.93% 0.33% NA
Aus  269 76.20% 0.00% 2.60% 21.19% NA
Indica I  595 95.50% 0.00% 0.00% 4.54% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 95.10% 0.00% 1.42% 3.50% NA
Indica Intermediate  786 96.40% 0.00% 0.76% 2.80% NA
Temperate Japonica  767 94.10% 4.20% 1.69% 0.00% NA
Tropical Japonica  504 99.80% 0.00% 0.00% 0.20% NA
Japonica Intermediate  241 97.90% 0.00% 0.41% 1.66% NA
VI/Aromatic  96 13.50% 0.00% 9.38% 77.08% NA
Intermediate  90 90.00% 1.10% 1.11% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0140818805 C -> T LOC_Os01g70470.1 downstream_gene_variant ; 4672.0bp to feature; MODIFIER silent_mutation Average:87.024; most accessible tissue: Minghui63 young leaf, score: 96.718 N N N N
vg0140818805 C -> T LOC_Os01g70480.1 downstream_gene_variant ; 3475.0bp to feature; MODIFIER silent_mutation Average:87.024; most accessible tissue: Minghui63 young leaf, score: 96.718 N N N N
vg0140818805 C -> T LOC_Os01g70470-LOC_Os01g70480 intergenic_region ; MODIFIER silent_mutation Average:87.024; most accessible tissue: Minghui63 young leaf, score: 96.718 N N N N
vg0140818805 C -> DEL N N silent_mutation Average:87.024; most accessible tissue: Minghui63 young leaf, score: 96.718 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)
vg0140818805 C T 0.02 0.01 0.01 0.0 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0140818805 NA 3.75E-12 Awn_length Jap_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
vg0140818805 3.98E-06 2.28E-07 mr1201 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
vg0140818805 NA 5.02E-06 mr1219 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
vg0140818805 5.76E-06 6.54E-07 mr1274 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
vg0140818805 3.25E-07 1.75E-08 mr1274_2 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
vg0140818805 NA 4.83E-06 mr1758_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