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Detailed information for vg0420714804:

Variant ID: vg0420714804 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 20714804
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 291. )

Flanking Sequence (100 bp) in Reference Genome:


TTATCAGATCGATCGATGATGGATGATGGGCATGGATGGCCGGATGGGAGATGGTTATCTATCACCAGTGACTACGTGCAGCGCGGTGGTGTGGCACTGT[G/A]
GGGTACTCTACAATTCGACGTGTTTGGGCCTTATTTAGATTCTAACTTTTCTTTTCAAACTTTCAACTTTTTCGTCACATCGAATTTTTCTATACACACA

Reverse complement sequence

TGTGTGTATAGAAAAATTCGATGTGACGAAAAAGTTGAAAGTTTGAAAAGAAAAGTTAGAATCTAAATAAGGCCCAAACACGTCGAATTGTAGAGTACCC[C/T]
ACAGTGCCACACCACCGCGCTGCACGTAGTCACTGGTGATAGATAACCATCTCCCATCCGGCCATCCATGCCCATCATCCATCATCGATCGATCTGATAA

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 95.70% 4.30% 0.02% 0.00% NA
All Indica  2759 99.40% 0.60% 0.00% 0.00% NA
All Japonica  1512 88.90% 11.00% 0.07% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 99.10% 0.90% 0.00% 0.00% NA
Temperate Japonica  767 83.60% 16.30% 0.13% 0.00% NA
Tropical Japonica  504 95.80% 4.20% 0.00% 0.00% NA
Japonica Intermediate  241 91.30% 8.70% 0.00% 0.00% NA
VI/Aromatic  96 87.50% 12.50% 0.00% 0.00% NA
Intermediate  90 96.70% 3.30% 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
vg0420714804 G -> A LOC_Os04g34170.1 downstream_gene_variant ; 4973.0bp to feature; MODIFIER silent_mutation Average:83.838; most accessible tissue: Minghui63 panicle, score: 97.693 N N N N
vg0420714804 G -> A LOC_Os04g34190.1 downstream_gene_variant ; 3536.0bp to feature; MODIFIER silent_mutation Average:83.838; most accessible tissue: Minghui63 panicle, score: 97.693 N N N N
vg0420714804 G -> A LOC_Os04g34170.3 downstream_gene_variant ; 4973.0bp to feature; MODIFIER silent_mutation Average:83.838; most accessible tissue: Minghui63 panicle, score: 97.693 N N N N
vg0420714804 G -> A LOC_Os04g34180.1 intron_variant ; MODIFIER silent_mutation Average:83.838; most accessible tissue: Minghui63 panicle, score: 97.693 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)
vg0420714804 G A -0.01 0.01 0.0 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0420714804 4.83E-06 4.83E-06 mr1760 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