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Detailed information for vg0901840944:

Variant ID: vg0901840944 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 1840944
Reference Allele: GAlternative Allele: A
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, A: 0.03, others allele: 0.00, population size: 88. )

Flanking Sequence (100 bp) in Reference Genome:


TCGTCCAGAATGCTGGAGGCGACGAGGGCCGCCTGCCACTCCACCTCCGTCTCGCGCATGATGGAGTCCAGCGTCTCCTCGCGCGCCTGGATCTCAGCCA[G/A]
CTGAGCCTGGTGCATCTTGCGCCCTGGCTCGACCAGGGCATCCACGGTGCAGCGCCCCTCCTCCACTCGTGAACGGTCTGCCGCGACCTGCGCCCACTCG

Reverse complement sequence

CGAGTGGGCGCAGGTCGCGGCAGACCGTTCACGAGTGGAGGAGGGGCGCTGCACCGTGGATGCCCTGGTCGAGCCAGGGCGCAAGATGCACCAGGCTCAG[C/T]
TGGCTGAGATCCAGGCGCGCGAGGAGACGCTGGACTCCATCATGCGCGAGACGGAGGTGGAGTGGCAGGCGGCCCTCGTCGCCTCCAGCATTCTGGACGA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 56.70% 38.80% 0.78% 3.72% NA
All Indica  2759 87.10% 6.80% 0.65% 5.40% NA
All Japonica  1512 1.10% 98.90% 0.00% 0.00% NA
Aus  269 81.40% 3.30% 5.95% 9.29% NA
Indica I  595 89.70% 6.40% 0.67% 3.19% NA
Indica II  465 82.40% 8.60% 2.37% 6.67% NA
Indica III  913 89.20% 3.90% 0.11% 6.79% NA
Indica Intermediate  786 85.60% 9.40% 0.25% 4.71% NA
Temperate Japonica  767 0.80% 99.20% 0.00% 0.00% NA
Tropical Japonica  504 1.00% 99.00% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.90% 0.00% 0.00% NA
VI/Aromatic  96 5.20% 92.70% 2.08% 0.00% NA
Intermediate  90 40.00% 56.70% 1.11% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0901840944 G -> DEL LOC_Os09g03660.1 N frameshift_variant Average:79.125; most accessible tissue: Zhenshan97 young leaf, score: 92.764 N N N N
vg0901840944 G -> A LOC_Os09g03660.1 synonymous_variant ; p.Leu525Leu; LOW stop_gained Average:79.125; most accessible tissue: Zhenshan97 young leaf, score: 92.764 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)
vg0901840944 G A -0.01 -0.01 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0901840944 1.45E-07 1.45E-07 mr1462 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
vg0901840944 NA 8.18E-06 mr1783 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