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Detailed information for vg0602041810:

Variant ID: vg0602041810 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 2041810
Reference Allele: GAlternative Allele: T,A
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTTAACCAACAAATATATGACCATAACCATTGAATGAACTTGTTCAGAAGAGTTGTCTGCTACAGCGCTGTGGCTGCAACAACTGCTACAACGTCTAAC[G/T,A]
TACTCCCTCCGTCCCATAATATAAAGGATTTTCAGTTTTTTCTTGCAACGTTTGACCACTCGTCTTATTCATTTTTTTTTTGCAAATATAAAAAACGAAA

Reverse complement sequence

TTTCGTTTTTTATATTTGCAAAAAAAAAATGAATAAGACGAGTGGTCAAACGTTGCAAGAAAAAACTGAAAATCCTTTATATTATGGGACGGAGGGAGTA[C/A,T]
GTTAGACGTTGTAGCAGTTGTTGCAGCCACAGCGCTGTAGCAGACAACTCTTCTGAACAAGTTCATTCAATGGTTATGGTCATATATTTGTTGGTTAAAA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.00% 3.50% 0.49% 0.00% A: 0.04%
All Indica  2759 97.80% 2.00% 0.18% 0.00% A: 0.07%
All Japonica  1512 92.10% 6.70% 1.12% 0.00% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 94.40% 4.70% 0.86% 0.00% NA
Indica III  913 99.60% 0.20% 0.00% 0.00% A: 0.22%
Indica Intermediate  786 96.10% 3.80% 0.13% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 77.00% 19.80% 3.17% 0.00% NA
Japonica Intermediate  241 98.80% 0.80% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 90.00% 10.00% 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
vg0602041810 G -> T LOC_Os06g04680.1 upstream_gene_variant ; 383.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> T LOC_Os06g04680.2 upstream_gene_variant ; 383.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> T LOC_Os06g04670.1 downstream_gene_variant ; 4032.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> T LOC_Os06g04690.1 downstream_gene_variant ; 1622.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> T LOC_Os06g04680-LOC_Os06g04690 intergenic_region ; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> A LOC_Os06g04680.1 upstream_gene_variant ; 383.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> A LOC_Os06g04680.2 upstream_gene_variant ; 383.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> A LOC_Os06g04670.1 downstream_gene_variant ; 4032.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> A LOC_Os06g04690.1 downstream_gene_variant ; 1622.0bp to feature; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 N N N N
vg0602041810 G -> A LOC_Os06g04680-LOC_Os06g04690 intergenic_region ; MODIFIER silent_mutation Average:84.961; most accessible tissue: Callus, score: 97.829 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)
vg0602041810 G A -0.06 -0.05 -0.05 -0.04 -0.04 -0.03
vg0602041810 G T -0.01 0.01 0.03 -0.04 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0602041810 NA 2.91E-06 mr1082 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
vg0602041810 5.13E-07 1.08E-09 mr1083 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
vg0602041810 NA 6.77E-07 mr1226 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
vg0602041810 2.11E-08 2.11E-08 mr1076_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
vg0602041810 NA 5.05E-07 mr1082_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
vg0602041810 NA 7.28E-08 mr1083_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
vg0602041810 2.36E-06 1.12E-07 mr1226_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
vg0602041810 NA 5.20E-06 mr1408_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