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Detailed information for vg0424741072:

Variant ID: vg0424741072 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 24741072
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 309. )

Flanking Sequence (100 bp) in Reference Genome:


AAGTGACAGCATATCACAATCTCCTGTACAGTTCTAAACCTGTTTGCTGTCCAATCCCATTGCCACCTTGCTTACAACCAAGTAATAACAGGAGCAGTAC[T/C]
TGCTCAGAGAGGTGATGAGAAGAAAAACAGAGATGATTCAGACTACCCCCTGCGTCGCGCTGCTCTTGCTCGTCGGCGTTGCTTTTGCTGCTCGATCGGC

Reverse complement sequence

GCCGATCGAGCAGCAAAAGCAACGCCGACGAGCAAGAGCAGCGCGACGCAGGGGGTAGTCTGAATCATCTCTGTTTTTCTTCTCATCACCTCTCTGAGCA[A/G]
GTACTGCTCCTGTTATTACTTGGTTGTAAGCAAGGTGGCAATGGGATTGGACAGCAAACAGGTTTAGAACTGTACAGGAGATTGTGATATGCTGTCACTT

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 59.90% 39.50% 0.00% 0.66% NA
All Indica  2759 96.10% 3.10% 0.00% 0.76% NA
All Japonica  1512 0.70% 98.90% 0.00% 0.33% NA
Aus  269 46.80% 53.20% 0.00% 0.00% NA
Indica I  595 95.60% 3.00% 0.00% 1.34% NA
Indica II  465 96.60% 2.60% 0.00% 0.86% NA
Indica III  913 98.50% 1.20% 0.00% 0.33% NA
Indica Intermediate  786 93.50% 5.70% 0.00% 0.76% NA
Temperate Japonica  767 0.30% 99.60% 0.00% 0.13% NA
Tropical Japonica  504 1.60% 98.00% 0.00% 0.40% NA
Japonica Intermediate  241 0.40% 98.80% 0.00% 0.83% NA
VI/Aromatic  96 1.00% 99.00% 0.00% 0.00% NA
Intermediate  90 43.30% 51.10% 0.00% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0424741072 T -> C LOC_Os04g41740.1 5_prime_UTR_premature_start_codon_gain_variant ; LOW silent_mutation Average:79.964; most accessible tissue: Callus, score: 92.469 N N N N
vg0424741072 T -> C LOC_Os04g41740.1 5_prime_UTR_variant ; 15.0bp to feature; MODIFIER silent_mutation Average:79.964; most accessible tissue: Callus, score: 92.469 N N N N
vg0424741072 T -> C LOC_Os04g41730.1 upstream_gene_variant ; 3076.0bp to feature; MODIFIER silent_mutation Average:79.964; most accessible tissue: Callus, score: 92.469 N N N N
vg0424741072 T -> C LOC_Os04g41750.1 upstream_gene_variant ; 3625.0bp to feature; MODIFIER silent_mutation Average:79.964; most accessible tissue: Callus, score: 92.469 N N N N
vg0424741072 T -> DEL N N silent_mutation Average:79.964; most accessible tissue: Callus, score: 92.469 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)
vg0424741072 T C 0.01 0.0 0.01 0.02 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0424741072 NA 1.38E-09 mr1379 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
vg0424741072 NA 6.58E-42 mr1509 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
vg0424741072 NA 7.02E-24 mr1571 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
vg0424741072 NA 9.52E-22 mr1580 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
vg0424741072 NA 1.20E-24 mr1731 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
vg0424741072 NA 5.54E-19 mr1825 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
vg0424741072 NA 5.87E-06 mr1524_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
vg0424741072 NA 3.03E-06 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
vg0424741072 NA 2.97E-15 mr1578_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
vg0424741072 NA 3.32E-30 mr1580_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
vg0424741072 NA 4.41E-12 mr1666_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
vg0424741072 NA 2.34E-21 mr1698_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
vg0424741072 NA 2.69E-19 mr1731_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
vg0424741072 NA 4.35E-29 mr1825_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