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Detailed information for vg0432188448:

Variant ID: vg0432188448 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 32188448
Reference Allele: GAlternative Allele: A,GCGCACAGGGCA
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCGTAGCAGGGGTATTTTGGTCCAGAAAAAAGTTAAAATTGAGGAAAAAAATTTCTATTTACCCAAAAGAGTGAAAATAGCACTTTGGTGAACACCTCCA[G/A,GCGCACAGGGCA]
TTTAAGATAGCATTTTAGTGAATTAGTTTGAAGAGATAGCATTCCAGCGAAACCACTCTTTTACGATAGTATAATCCCAATTTTCTCGTTGAGAGTGGCC

Reverse complement sequence

GGCCACTCTCAACGAGAAAATTGGGATTATACTATCGTAAAAGAGTGGTTTCGCTGGAATGCTATCTCTTCAAACTAATTCACTAAAATGCTATCTTAAA[C/T,TGCCCTGTGCGC]
TGGAGGTGTTCACCAAAGTGCTATTTTCACTCTTTTGGGTAAATAGAAATTTTTTTCCTCAATTTTAACTTTTTTCTGGACCAAAATACCCCTGCTACGG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 87.30% 0.70% 1.14% 10.79% GCGCACAGGGCA: 0.02%
All Indica  2759 98.60% 0.40% 0.18% 0.83% NA
All Japonica  1512 77.00% 1.40% 2.58% 19.05% NA
Aus  269 32.30% 0.00% 3.35% 63.94% GCGCACAGGGCA: 0.37%
Indica I  595 98.30% 1.30% 0.17% 0.17% NA
Indica II  465 99.80% 0.00% 0.22% 0.00% NA
Indica III  913 98.50% 0.30% 0.22% 0.99% NA
Indica Intermediate  786 98.10% 0.10% 0.13% 1.65% NA
Temperate Japonica  767 91.80% 2.60% 2.35% 3.26% NA
Tropical Japonica  504 68.10% 0.00% 3.17% 28.77% NA
Japonica Intermediate  241 48.50% 0.40% 2.07% 48.96% NA
VI/Aromatic  96 82.30% 0.00% 1.04% 16.67% NA
Intermediate  90 87.80% 0.00% 0.00% 12.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0432188448 G -> GCGCACAGGGCA LOC_Os04g53996.1 upstream_gene_variant ; 3898.0bp to feature; MODIFIER silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 N N N N
vg0432188448 G -> GCGCACAGGGCA LOC_Os04g54002.1 downstream_gene_variant ; 956.0bp to feature; MODIFIER silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 N N N N
vg0432188448 G -> GCGCACAGGGCA LOC_Os04g53996-LOC_Os04g54002 intergenic_region ; MODIFIER silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 N N N N
vg0432188448 G -> DEL N N silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 N N N N
vg0432188448 G -> A LOC_Os04g53996.1 upstream_gene_variant ; 3897.0bp to feature; MODIFIER silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 N N N N
vg0432188448 G -> A LOC_Os04g54002.1 downstream_gene_variant ; 957.0bp to feature; MODIFIER silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 N N N N
vg0432188448 G -> A LOC_Os04g53996-LOC_Os04g54002 intergenic_region ; MODIFIER silent_mutation Average:93.778; most accessible tissue: Zhenshan97 flag leaf, score: 98.779 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)
vg0432188448 G A 0.0 0.01 0.02 0.01 0.02 0.01
vg0432188448 G GCGCA* 0.02 0.07 0.05 0.02 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0432188448 3.28E-06 7.20E-06 mr1113 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
vg0432188448 1.89E-06 NA mr1114 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
vg0432188448 3.62E-06 NA mr1116 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
vg0432188448 2.29E-07 3.87E-07 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
vg0432188448 3.61E-07 1.08E-06 mr1118 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
vg0432188448 6.09E-06 5.70E-06 mr1123 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
vg0432188448 3.61E-09 1.15E-09 mr1150 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
vg0432188448 NA 9.12E-06 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
vg0432188448 4.26E-06 4.80E-06 mr1242 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
vg0432188448 1.02E-08 2.31E-08 mr1247 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
vg0432188448 NA 5.78E-06 mr1495 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
vg0432188448 6.81E-08 2.73E-08 mr1496 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
vg0432188448 8.11E-06 8.11E-06 mr1589 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
vg0432188448 4.60E-06 4.60E-06 mr1868 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
vg0432188448 8.23E-08 5.05E-08 mr1917 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
vg0432188448 7.81E-06 1.47E-06 mr1936 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