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Detailed information for vg0623387556:

Variant ID: vg0623387556 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 23387556
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.00, others allele: 0.00, population size: 34. )

Flanking Sequence (100 bp) in Reference Genome:


ACCCTACGCAACCTGTCTAATTCGATCACAGAGGGAAATTGAACCATATAAGTGTCTGGAGCAGTCTCCTTAACATCCCATTGGAACCTAACCGGCACCA[A/G]
CCTTCGCAATTCAATGATCAAGTTGTCCACAGAAATGTGGCCATTCTCCACCCGGATAATTGCTGTTTTGTTGTGTTCCCTGGGTTTCACTGCCCCTGTT

Reverse complement sequence

AACAGGGGCAGTGAAACCCAGGGAACACAACAAAACAGCAATTATCCGGGTGGAGAATGGCCACATTTCTGTGGACAACTTGATCATTGAATTGCGAAGG[T/C]
TGGTGCCGGTTAGGTTCCAATGGGATGTTAAGGAGACTGCTCCAGACACTTATATGGTTCAATTTCCCTCTGTGATCGAATTAGACAGGTTGCGTAGGGT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 40.10% 9.00% 2.77% 48.10% NA
All Indica  2759 46.50% 15.30% 4.10% 34.14% NA
All Japonica  1512 21.80% 0.10% 0.73% 77.45% NA
Aus  269 81.80% 0.00% 0.37% 17.84% NA
Indica I  595 48.90% 21.50% 3.70% 25.88% NA
Indica II  465 33.80% 11.60% 4.30% 50.32% NA
Indica III  913 53.60% 14.50% 3.40% 28.59% NA
Indica Intermediate  786 43.90% 13.70% 5.09% 37.28% NA
Temperate Japonica  767 34.80% 0.00% 0.65% 64.54% NA
Tropical Japonica  504 7.30% 0.00% 0.99% 91.67% NA
Japonica Intermediate  241 10.40% 0.40% 0.41% 88.80% NA
VI/Aromatic  96 31.20% 1.00% 3.12% 64.58% NA
Intermediate  90 37.80% 3.30% 3.33% 55.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0623387556 A -> G LOC_Os06g39400.1 synonymous_variant ; p.Leu250Leu; LOW synonymous_codon Average:69.37; most accessible tissue: Minghui63 young leaf, score: 86.015 N N N N
vg0623387556 A -> DEL LOC_Os06g39400.1 N frameshift_variant Average:69.37; most accessible tissue: Minghui63 young leaf, score: 86.015 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)
vg0623387556 A G 0.02 0.01 0.02 0.03 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0623387556 3.77E-07 7.97E-07 mr1547 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
vg0623387556 3.55E-06 1.51E-07 mr1547 Ind_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
vg0623387556 9.50E-11 1.03E-12 mr1709 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
vg0623387556 6.95E-09 2.20E-10 mr1709 Ind_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
vg0623387556 6.27E-06 2.81E-07 mr1547_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
vg0623387556 6.19E-06 1.15E-08 mr1547_2 Ind_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
vg0623387556 1.53E-13 1.47E-12 mr1709_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
vg0623387556 6.13E-10 5.85E-11 mr1709_2 Ind_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