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Detailed information for vg0223144984:

Variant ID: vg0223144984 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 23144984
Reference Allele: GAlternative Allele: C,GTTGGTATAATC
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.88, G: 0.12, others allele: 0.00, population size: 104. )

Flanking Sequence (100 bp) in Reference Genome:


AAGTGTTTTCACATTTAAGGGACACTATTCATTTTCTTAAAAATACGCACAATTGAGTCATGAAATCCTTTTTAAAAAAGATTAATAATGTTGGTATAAT[G/C,GTTGGTATAATC]
ACTGGCTGTTTGCTGCATGCGGCTGCGCTGCACAGACGAACAGAAGAAATGCTAGTTGGGTTCCTGTAGCAGATGGCTGTGGCGCACCGAACAAGCCCTA

Reverse complement sequence

TAGGGCTTGTTCGGTGCGCCACAGCCATCTGCTACAGGAACCCAACTAGCATTTCTTCTGTTCGTCTGTGCAGCGCAGCCGCATGCAGCAAACAGCCAGT[C/G,GATTATACCAAC]
ATTATACCAACATTATTAATCTTTTTTAAAAAGGATTTCATGACTCAATTGTGCGTATTTTTAAGAAAATGAATAGTGTCCCTTAAATGTGAAAACACTT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 80.40% 19.40% 0.17% 0.00% GTTGGTATAATC: 0.02%
All Indica  2759 96.50% 3.30% 0.14% 0.00% GTTGGTATAATC: 0.04%
All Japonica  1512 46.50% 53.30% 0.20% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 96.60% 3.00% 0.34% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 95.00% 5.00% 0.00% 0.00% NA
Indica Intermediate  786 97.30% 2.30% 0.25% 0.00% GTTGGTATAATC: 0.13%
Temperate Japonica  767 18.00% 81.90% 0.13% 0.00% NA
Tropical Japonica  504 88.50% 11.50% 0.00% 0.00% NA
Japonica Intermediate  241 49.40% 49.80% 0.83% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 76.70% 22.20% 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
vg0223144984 G -> GTTGGTATAATC LOC_Os02g38250.1 upstream_gene_variant ; 4646.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> GTTGGTATAATC LOC_Os02g38270.1 upstream_gene_variant ; 651.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> GTTGGTATAATC LOC_Os02g38260.1 downstream_gene_variant ; 713.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> GTTGGTATAATC LOC_Os02g38280.1 downstream_gene_variant ; 2328.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> GTTGGTATAATC LOC_Os02g38260-LOC_Os02g38270 intergenic_region ; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> C LOC_Os02g38250.1 upstream_gene_variant ; 4645.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> C LOC_Os02g38270.1 upstream_gene_variant ; 652.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> C LOC_Os02g38260.1 downstream_gene_variant ; 712.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> C LOC_Os02g38280.1 downstream_gene_variant ; 2329.0bp to feature; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 N N N N
vg0223144984 G -> C LOC_Os02g38260-LOC_Os02g38270 intergenic_region ; MODIFIER silent_mutation Average:73.81; most accessible tissue: Minghui63 root, score: 94.001 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)
vg0223144984 G C -0.01 -0.02 -0.01 -0.01 -0.02 0.02
vg0223144984 G GTTGG* -0.04 -0.09 -0.05 -0.08 -0.26 -0.49

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0223144984 NA 3.86E-23 mr1115 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
vg0223144984 NA 7.07E-30 mr1137 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
vg0223144984 NA 7.87E-08 mr1229 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
vg0223144984 3.74E-06 3.74E-06 mr1418 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
vg0223144984 NA 2.01E-06 mr1419 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
vg0223144984 NA 3.04E-06 mr1502 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
vg0223144984 NA 4.79E-08 mr1543 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
vg0223144984 NA 1.32E-06 mr1668 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
vg0223144984 NA 2.16E-06 mr1729 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
vg0223144984 NA 1.55E-13 mr1740 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
vg0223144984 NA 4.67E-07 mr1763 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
vg0223144984 NA 6.99E-06 mr1826 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
vg0223144984 5.51E-06 5.50E-06 mr1833 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
vg0223144984 NA 2.17E-10 mr1880 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
vg0223144984 NA 2.22E-06 mr1977 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
vg0223144984 NA 7.62E-13 mr1182_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