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Detailed information for vg0225231134:

Variant ID: vg0225231134 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 25231134
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTTAATGAAAAATCATAAAAAAATAGATCAATTAGATGAAATCGCAAGTTTAGCACCCTGTCGAACAACCGTGGTTTGACAGGATACTTATCGAACAAC[C/T]
GCAGCTCGATAGGTGATAAAAAATTTTTTAGAAAAAGAGAATAATCACTGCAGCGGCACTGTAGTGCATTGTTATTGCGAACATATCGAACATTGGCAGT

Reverse complement sequence

ACTGCCAATGTTCGATATGTTCGCAATAACAATGCACTACAGTGCCGCTGCAGTGATTATTCTCTTTTTCTAAAAAATTTTTTATCACCTATCGAGCTGC[G/A]
GTTGTTCGATAAGTATCCTGTCAAACCACGGTTGTTCGACAGGGTGCTAAACTTGCGATTTCATCTAATTGATCTATTTTTTTATGATTTTTCATTAAAA

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 98.10% 1.90% 0.00% 0.00% NA
All Indica  2759 99.50% 0.50% 0.00% 0.00% NA
All Japonica  1512 95.50% 4.50% 0.00% 0.00% NA
Aus  269 98.90% 1.10% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 98.30% 1.70% 0.00% 0.00% NA
Temperate Japonica  767 95.80% 4.20% 0.00% 0.00% NA
Tropical Japonica  504 96.40% 3.60% 0.00% 0.00% NA
Japonica Intermediate  241 92.50% 7.50% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 98.90% 1.10% 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
vg0225231134 C -> T LOC_Os02g41990.1 upstream_gene_variant ; 513.0bp to feature; MODIFIER silent_mutation Average:95.51; most accessible tissue: Minghui63 root, score: 98.262 N N N N
vg0225231134 C -> T LOC_Os02g41990.2 upstream_gene_variant ; 513.0bp to feature; MODIFIER silent_mutation Average:95.51; most accessible tissue: Minghui63 root, score: 98.262 N N N N
vg0225231134 C -> T LOC_Os02g41980.1 downstream_gene_variant ; 1461.0bp to feature; MODIFIER silent_mutation Average:95.51; most accessible tissue: Minghui63 root, score: 98.262 N N N N
vg0225231134 C -> T LOC_Os02g41980-LOC_Os02g41990 intergenic_region ; MODIFIER silent_mutation Average:95.51; most accessible tissue: Minghui63 root, score: 98.262 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)
vg0225231134 C T -0.01 -0.01 0.0 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0225231134 NA 1.37E-06 mr1117 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
vg0225231134 NA 7.32E-08 mr1240 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
vg0225231134 NA 7.18E-06 mr1534 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
vg0225231134 7.41E-06 7.41E-06 mr1651 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
vg0225231134 1.45E-06 NA mr1679 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
vg0225231134 NA 4.77E-07 mr1693 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
vg0225231134 NA 7.14E-06 mr1720 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
vg0225231134 NA 3.14E-07 mr1113_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
vg0225231134 NA 7.69E-06 mr1117_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
vg0225231134 NA 9.32E-06 mr1119_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