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Detailed information for vg0505449752:

Variant ID: vg0505449752 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 5449752
Reference Allele: CAlternative Allele: T,A
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCTTTTATTATTTTTAGTGTAACTGACCTATGGGTCTACTATTTTTATATATTTTTGGACTGAATTGCCACGTAGGTGTCATGTCAATGCCATATGGAA[C/T,A]
AAAGAACTAGTCAAAATAGCAACGTAGATGTCACATCAGTTAAAACTGAGAAAAATGCCGCCGAGAGACCTAATTTTCACTAGTTTTGTAAGCTGGGAAA

Reverse complement sequence

TTTCCCAGCTTACAAAACTAGTGAAAATTAGGTCTCTCGGCGGCATTTTTCTCAGTTTTAACTGATGTGACATCTACGTTGCTATTTTGACTAGTTCTTT[G/A,T]
TTCCATATGGCATTGACATGACACCTACGTGGCAATTCAGTCCAAAAATATATAAAAATAGTAGACCCATAGGTCAGTTACACTAAAAATAATAAAAGAA

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 88.40% 11.50% 0.02% 0.00% A: 0.02%
All Indica  2759 97.30% 2.70% 0.00% 0.00% NA
All Japonica  1512 85.60% 14.40% 0.07% 0.00% NA
Aus  269 12.60% 87.40% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 93.10% 6.90% 0.00% 0.00% NA
Indica III  913 99.50% 0.50% 0.00% 0.00% NA
Indica Intermediate  786 95.30% 4.70% 0.00% 0.00% NA
Temperate Japonica  767 79.70% 20.30% 0.00% 0.00% NA
Tropical Japonica  504 98.80% 1.00% 0.20% 0.00% NA
Japonica Intermediate  241 76.80% 23.20% 0.00% 0.00% NA
VI/Aromatic  96 92.70% 6.20% 0.00% 0.00% A: 1.04%
Intermediate  90 86.70% 13.30% 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
vg0505449752 C -> T LOC_Os05g09650.1 upstream_gene_variant ; 352.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> T LOC_Os05g09630.1 downstream_gene_variant ; 4676.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> T LOC_Os05g09640.1 downstream_gene_variant ; 1673.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> T LOC_Os05g09630.2 downstream_gene_variant ; 4540.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> T LOC_Os05g09640-LOC_Os05g09650 intergenic_region ; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> A LOC_Os05g09650.1 upstream_gene_variant ; 352.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> A LOC_Os05g09630.1 downstream_gene_variant ; 4676.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> A LOC_Os05g09640.1 downstream_gene_variant ; 1673.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> A LOC_Os05g09630.2 downstream_gene_variant ; 4540.0bp to feature; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 N N N N
vg0505449752 C -> A LOC_Os05g09640-LOC_Os05g09650 intergenic_region ; MODIFIER silent_mutation Average:93.05; most accessible tissue: Minghui63 panicle, score: 96.34 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)
vg0505449752 C A -0.01 0.0 0.01 -0.01 -0.01 -0.01
vg0505449752 C T 0.01 0.01 0.01 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0505449752 NA 3.60E-12 mr1180 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
vg0505449752 NA 5.08E-06 mr1648 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
vg0505449752 NA 5.17E-06 mr1697 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
vg0505449752 NA 2.63E-06 mr1236_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
vg0505449752 NA 1.01E-08 mr1510_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
vg0505449752 NA 8.82E-17 mr1583_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
vg0505449752 NA 3.38E-08 mr1702_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
vg0505449752 NA 5.32E-06 mr1702_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
vg0505449752 NA 5.38E-08 mr1707_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
vg0505449752 2.76E-06 NA mr1713_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
vg0505449752 NA 9.19E-07 mr1729_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
vg0505449752 NA 1.08E-07 mr1740_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
vg0505449752 NA 7.40E-06 mr1743_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
vg0505449752 4.75E-07 NA mr1943_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