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Detailed information for vg0722039204:

Variant ID: vg0722039204 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 22039204
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.99, T: 0.01, others allele: 0.00, population size: 286. )

Flanking Sequence (100 bp) in Reference Genome:


TGGCACAAGCCGCTGGCTCACACCAGTGGTCTTGTTCAGCCCCAGCTTGCCGCCCGGAAGCCAGGTGTTTGTCGGATGATCTATGCTCCTCCAGTAGACT[A/T]
TGGATGAATTGGTGGCATCCATGAGGTCGAGGCTACCGCCGTCCTGGATGACGGCAACGGTGGAGTTGGAGGCCACACTTACGTTGGTCGACCACAGCTG

Reverse complement sequence

CAGCTGTGGTCGACCAACGTAAGTGTGGCCTCCAACTCCACCGTTGCCGTCATCCAGGACGGCGGTAGCCTCGACCTCATGGATGCCACCAATTCATCCA[T/A]
AGTCTACTGGAGGAGCATAGATCATCCGACAAACACCTGGCTTCCGGGCGGCAAGCTGGGGCTGAACAAGACCACTGGTGTGAGCCAGCGGCTTGTGCCA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 59.40% 40.50% 0.06% 0.00% NA
All Indica  2759 34.50% 65.40% 0.11% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 68.40% 31.60% 0.00% 0.00% NA
Indica I  595 6.40% 93.30% 0.34% 0.00% NA
Indica II  465 43.40% 56.60% 0.00% 0.00% NA
Indica III  913 47.60% 52.40% 0.00% 0.00% NA
Indica Intermediate  786 35.20% 64.60% 0.13% 0.00% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 74.40% 25.60% 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
vg0722039204 A -> T LOC_Os07g36780.1 missense_variant ; p.Ile144Lys; MODERATE nonsynonymous_codon ; I144K Average:88.815; most accessible tissue: Minghui63 flag leaf, score: 93.673 benign 0.245 TOLERATED 0.92

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)
vg0722039204 A T -0.06 -0.03 0.0 -0.02 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0722039204 NA 1.99E-08 mr1717 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