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Detailed information for vg0322395432:

Variant ID: vg0322395432 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 22395432
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGATCTCGATCCCTCTCGTGACGGTCGACAAATCTAGACCCGCAAAGATAAACACACTGTTGAGTTTACTAGTCCACCGTGCTAGCTAGCTAGGTGTCGC[G/A]
TTCAACTACTTGTGATGTCTCTGGAGATCATATCGCTAACTGATCAGTACTAACTACAGTATTAACCAATAGCTGCTACTCTGTCCTTTTCATACTTTTC

Reverse complement sequence

GAAAAGTATGAAAAGGACAGAGTAGCAGCTATTGGTTAATACTGTAGTTAGTACTGATCAGTTAGCGATATGATCTCCAGAGACATCACAAGTAGTTGAA[C/T]
GCGACACCTAGCTAGCTAGCACGGTGGACTAGTAAACTCAACAGTGTGTTTATCTTTGCGGGTCTAGATTTGTCGACCGTCACGAGAGGGATCGAGATCC

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 90.40% 8.30% 1.33% 0.00% NA
All Indica  2759 99.80% 0.20% 0.00% 0.00% NA
All Japonica  1512 72.20% 23.60% 4.17% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 99.40% 0.60% 0.00% 0.00% NA
Temperate Japonica  767 81.60% 12.60% 5.74% 0.00% NA
Tropical Japonica  504 51.00% 47.00% 1.98% 0.00% NA
Japonica Intermediate  241 86.70% 9.50% 3.73% 0.00% NA
VI/Aromatic  96 78.10% 21.90% 0.00% 0.00% NA
Intermediate  90 91.10% 8.90% 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
vg0322395432 G -> A LOC_Os03g40290.1 downstream_gene_variant ; 4440.0bp to feature; MODIFIER silent_mutation Average:73.787; most accessible tissue: Minghui63 root, score: 91.22 N N N N
vg0322395432 G -> A LOC_Os03g40270-LOC_Os03g40290 intergenic_region ; MODIFIER silent_mutation Average:73.787; most accessible tissue: Minghui63 root, score: 91.22 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)
vg0322395432 G A 0.13 0.11 0.04 0.03 0.15 0.14

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0322395432 2.23E-07 1.73E-15 mr1871 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
vg0322395432 NA 3.77E-06 mr1871 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
vg0322395432 1.49E-07 NA mr1305_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
vg0322395432 1.36E-06 1.79E-06 mr1305_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
vg0322395432 NA 2.11E-09 mr1379_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
vg0322395432 NA 1.84E-06 mr1409_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
vg0322395432 NA 8.25E-09 mr1559_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
vg0322395432 NA 1.08E-07 mr1559_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
vg0322395432 4.03E-07 NA mr1585_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
vg0322395432 NA 2.34E-10 mr1905_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