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Detailed information for vg0101944340:

Variant ID: vg0101944340 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 1944340
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, A: 0.01, others allele: 0.00, population size: 99. )

Flanking Sequence (100 bp) in Reference Genome:


GAACGGAAGTGAATGACACTTGTGCAAATCGGCCGGACACTTTATTTACTCATTCATTCAGACGCCATGGGACAATTCCAAGGACCGAACCAATGTTGTG[C/A]
TCCGGTCTAACCAGAATACATTACATTGGCGGAGGCCACGACACAACTGCCACACAGACACGAGACTCGCCACACATGGACCTGACACGACCGGACTCGA

Reverse complement sequence

TCGAGTCCGGTCGTGTCAGGTCCATGTGTGGCGAGTCTCGTGTCTGTGTGGCAGTTGTGTCGTGGCCTCCGCCAATGTAATGTATTCTGGTTAGACCGGA[G/T]
CACAACATTGGTTCGGTCCTTGGAATTGTCCCATGGCGTCTGAATGAATGAGTAAATAAAGTGTCCGGCCGATTTGCACAAGTGTCATTCACTTCCGTTC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.20% 16.50% 0.28% 0.00% NA
All Indica  2759 80.60% 19.00% 0.43% 0.00% NA
All Japonica  1512 84.10% 15.90% 0.07% 0.00% NA
Aus  269 96.70% 3.30% 0.00% 0.00% NA
Indica I  595 37.60% 61.00% 1.34% 0.00% NA
Indica II  465 96.10% 3.70% 0.22% 0.00% NA
Indica III  913 96.40% 3.60% 0.00% 0.00% NA
Indica Intermediate  786 85.60% 14.00% 0.38% 0.00% NA
Temperate Japonica  767 99.10% 0.90% 0.00% 0.00% NA
Tropical Japonica  504 56.50% 43.30% 0.20% 0.00% NA
Japonica Intermediate  241 93.80% 6.20% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 88.90% 11.10% 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
vg0101944340 C -> A LOC_Os01g04360.1 3_prime_UTR_variant ; 133.0bp to feature; MODIFIER silent_mutation Average:88.633; most accessible tissue: Minghui63 panicle, score: 98.182 N N N N
vg0101944340 C -> A LOC_Os01g04350.1 downstream_gene_variant ; 2387.0bp to feature; MODIFIER silent_mutation Average:88.633; most accessible tissue: Minghui63 panicle, score: 98.182 N N N N
vg0101944340 C -> A LOC_Os01g04370.1 downstream_gene_variant ; 4397.0bp to feature; MODIFIER silent_mutation Average:88.633; most accessible tissue: Minghui63 panicle, score: 98.182 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)
vg0101944340 C A 0.05 0.04 0.01 -0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0101944340 NA 1.73E-07 mr1746 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
vg0101944340 NA 7.86E-07 mr1951 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