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Detailed information for vg0124427686:

Variant ID: vg0124427686 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 24427686
Reference Allele: TAlternative Allele: C,A
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCAAGTTCTAAACGTCTAAGCTGAGCTAGTGTTTTACGCCTTCAGAAAAGGTTTACGTAGGACCTGTTTGACACAGCTTCAGCTCCAACCCTCCTGGAG[T/C,A]
TGGAGCTCAGCCAAATAGTTTCAACTCCACCAAAACTGGGAGTGGAGCTGGGTTGAGCTATCTCACGAAATAAACTAGAGTTGTGGAGCTGGATTTAGGC

Reverse complement sequence

GCCTAAATCCAGCTCCACAACTCTAGTTTATTTCGTGAGATAGCTCAACCCAGCTCCACTCCCAGTTTTGGTGGAGTTGAAACTATTTGGCTGAGCTCCA[A/G,T]
CTCCAGGAGGGTTGGAGCTGAAGCTGTGTCAAACAGGTCCTACGTAAACCTTTTCTGAAGGCGTAAAACACTAGCTCAGCTTAGACGTTTAGAACTTGAT

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 74.80% 22.30% 0.55% 2.31% A: 0.02%
All Indica  2759 95.30% 0.70% 0.80% 3.26% A: 0.04%
All Japonica  1512 38.40% 60.80% 0.20% 0.53% NA
Aus  269 95.20% 0.70% 0.00% 4.09% NA
Indica I  595 96.10% 0.20% 1.34% 2.35% NA
Indica II  465 96.30% 0.00% 0.43% 3.23% NA
Indica III  913 95.50% 0.20% 0.11% 4.05% A: 0.11%
Indica Intermediate  786 93.60% 1.90% 1.40% 3.05% NA
Temperate Japonica  767 16.70% 82.90% 0.39% 0.00% NA
Tropical Japonica  504 64.50% 34.50% 0.00% 0.99% NA
Japonica Intermediate  241 53.10% 45.60% 0.00% 1.24% NA
VI/Aromatic  96 14.60% 85.40% 0.00% 0.00% NA
Intermediate  90 63.30% 35.60% 1.11% 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
vg0124427686 T -> A LOC_Os01g42920.1 upstream_gene_variant ; 4543.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> A LOC_Os01g42934.1 upstream_gene_variant ; 1356.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> A LOC_Os01g42950.1 upstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> A LOC_Os01g42950.3 upstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> A LOC_Os01g42950.2 upstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> A LOC_Os01g42934-LOC_Os01g42950 intergenic_region ; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> DEL N N silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> C LOC_Os01g42920.1 upstream_gene_variant ; 4543.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> C LOC_Os01g42934.1 upstream_gene_variant ; 1356.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> C LOC_Os01g42950.1 upstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> C LOC_Os01g42950.3 upstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> C LOC_Os01g42950.2 upstream_gene_variant ; 954.0bp to feature; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 N N N N
vg0124427686 T -> C LOC_Os01g42934-LOC_Os01g42950 intergenic_region ; MODIFIER silent_mutation Average:90.666; most accessible tissue: Callus, score: 98.372 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)
vg0124427686 T A 0.0 -0.01 -0.01 -0.01 -0.01 -0.01
vg0124427686 T C 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0124427686 NA 2.72E-08 mr1299_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
vg0124427686 6.70E-06 6.70E-06 mr1369_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
vg0124427686 8.11E-06 8.11E-06 mr1453_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
vg0124427686 NA 3.37E-11 mr1537_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
vg0124427686 NA 5.72E-06 mr1648_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
vg0124427686 NA 5.11E-06 mr1693_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
vg0124427686 NA 3.56E-09 mr1700_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
vg0124427686 NA 2.07E-07 mr1840_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
vg0124427686 1.76E-06 NA mr1851_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
vg0124427686 NA 2.62E-06 mr1851_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
vg0124427686 NA 8.98E-07 mr1856_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