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Detailed information for vg1014690218:

Variant ID: vg1014690218 (JBrowse)Variation Type: SNP
Chromosome: chr10Position: 14690218
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 117. )

Flanking Sequence (100 bp) in Reference Genome:


TTTTACCATGCTTGTCTTATAGCATATACTCCATCCGTTAAAAAAAGACAACCTAATATTAGAACAAATCGGAATATAAAGTTATATCCAGATTCATTGT[G/A]
CTAGAATATATTGAACGAGATTAAGGCTTGGTTTAGTTCTAAACTTTTTCTTTAAACTTCAAACTTTTTCATCACATCAAAACTTTCCTACACACGTAAA

Reverse complement sequence

TTTACGTGTGTAGGAAAGTTTTGATGTGATGAAAAAGTTTGAAGTTTAAAGAAAAAGTTTAGAACTAAACCAAGCCTTAATCTCGTTCAATATATTCTAG[C/T]
ACAATGAATCTGGATATAACTTTATATTCCGATTTGTTCTAATATTAGGTTGTCTTTTTTTAACGGATGGAGTATATGCTATAAGACAAGCATGGTAAAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 67.30% 32.40% 0.28% 0.00% NA
All Indica  2759 45.30% 54.20% 0.47% 0.00% NA
All Japonica  1512 99.50% 0.50% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 77.00% 22.90% 0.17% 0.00% NA
Indica II  465 21.70% 78.10% 0.22% 0.00% NA
Indica III  913 36.80% 62.70% 0.55% 0.00% NA
Indica Intermediate  786 45.20% 54.10% 0.76% 0.00% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.60% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 70.00% 30.00% 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
vg1014690218 G -> A LOC_Os10g28240.1 upstream_gene_variant ; 4848.0bp to feature; MODIFIER silent_mutation Average:86.118; most accessible tissue: Zhenshan97 flag leaf, score: 95.615 N N N N
vg1014690218 G -> A LOC_Os10g28250.1 upstream_gene_variant ; 1719.0bp to feature; MODIFIER silent_mutation Average:86.118; most accessible tissue: Zhenshan97 flag leaf, score: 95.615 N N N N
vg1014690218 G -> A LOC_Os10g28254.1 upstream_gene_variant ; 3114.0bp to feature; MODIFIER silent_mutation Average:86.118; most accessible tissue: Zhenshan97 flag leaf, score: 95.615 N N N N
vg1014690218 G -> A LOC_Os10g28250-LOC_Os10g28254 intergenic_region ; MODIFIER silent_mutation Average:86.118; most accessible tissue: Zhenshan97 flag leaf, score: 95.615 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)
vg1014690218 G A 0.0 -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
vg1014690218 NA 1.93E-09 mr1559 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
vg1014690218 4.90E-06 NA mr1246_2 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
vg1014690218 NA 1.90E-07 mr1527_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
vg1014690218 NA 5.79E-07 mr1933_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