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Detailed information for vg0430538314:

Variant ID: vg0430538314 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 30538314
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACGTCTGCGAAACCACCCACATATACTGTCATGGGACCTCCTTTGAACAGTTTGCGTGAGTTTAGGGGTATACATTTCTGGTTTTGTGGTTAAGGGACCT[C/T]
AAAAAATCTCGCTGTTAAGTTGAGGGACCTCCGGTGAACTTATTCCTTTATGCAATGTTTGTCTTATGGACCAAAGCCCATTGGACTGGCACTATATTAT

Reverse complement sequence

ATAATATAGTGCCAGTCCAATGGGCTTTGGTCCATAAGACAAACATTGCATAAAGGAATAAGTTCACCGGAGGTCCCTCAACTTAACAGCGAGATTTTTT[G/A]
AGGTCCCTTAACCACAAAACCAGAAATGTATACCCCTAAACTCACGCAAACTGTTCAAAGGAGGTCCCATGACAGTATATGTGGGTGGTTTCGCAGACGT

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 87.00% 12.90% 0.08% 0.00% NA
All Indica  2759 96.80% 3.10% 0.11% 0.00% NA
All Japonica  1512 80.00% 20.00% 0.07% 0.00% NA
Aus  269 19.00% 81.00% 0.00% 0.00% NA
Indica I  595 98.50% 1.50% 0.00% 0.00% NA
Indica II  465 99.10% 0.90% 0.00% 0.00% NA
Indica III  913 96.10% 3.90% 0.00% 0.00% NA
Indica Intermediate  786 95.00% 4.60% 0.38% 0.00% NA
Temperate Japonica  767 95.00% 4.80% 0.13% 0.00% NA
Tropical Japonica  504 69.80% 30.20% 0.00% 0.00% NA
Japonica Intermediate  241 53.10% 46.90% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 92.20% 7.80% 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
vg0430538314 C -> T LOC_Os04g51540.1 upstream_gene_variant ; 2005.0bp to feature; MODIFIER silent_mutation Average:97.932; most accessible tissue: Minghui63 panicle, score: 99.307 N N N N
vg0430538314 C -> T LOC_Os04g51550.1 downstream_gene_variant ; 461.0bp to feature; MODIFIER silent_mutation Average:97.932; most accessible tissue: Minghui63 panicle, score: 99.307 N N N N
vg0430538314 C -> T LOC_Os04g51550-LOC_Os04g51560 intergenic_region ; MODIFIER silent_mutation Average:97.932; most accessible tissue: Minghui63 panicle, score: 99.307 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)
vg0430538314 C T -0.01 -0.01 0.0 -0.01 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0430538314 8.54E-06 NA mr1064 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
vg0430538314 2.88E-07 1.37E-11 mr1064 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
vg0430538314 NA 5.23E-08 mr1530 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
vg0430538314 2.79E-06 NA mr1534 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
vg0430538314 1.82E-08 5.76E-13 mr1534 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
vg0430538314 4.56E-13 NA mr1745 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
vg0430538314 3.80E-09 4.90E-15 mr1745 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
vg0430538314 9.53E-06 4.10E-09 mr1064_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
vg0430538314 1.58E-15 NA mr1745_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
vg0430538314 4.87E-09 1.69E-17 mr1745_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