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Detailed information for vg0526267993:

Variant ID: vg0526267993 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 26267993
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCGTGGTGGCGGGAGCATCTCTAGGACTCTGGGAACTTGTTCTCGGGGTCGGATGGGGCGGAGAGACTCTGAGAGAGGCCGGCGACAGCGAGGCGCGGT[G/A]
CGGGGAAGGGCGGAACGCCGCCGGGGAGGGAGAGGGGTCCAGCGATCAAAGCGGCGGTTCGGGAGTGTTCTACGGTGATCCAGGAGGGTGGCAACGAGGA

Reverse complement sequence

TCCTCGTTGCCACCCTCCTGGATCACCGTAGAACACTCCCGAACCGCCGCTTTGATCGCTGGACCCCTCTCCCTCCCCGGCGGCGTTCCGCCCTTCCCCG[C/T]
ACCGCGCCTCGCTGTCGCCGGCCTCTCTCAGAGTCTCTCCGCCCCATCCGACCCCGAGAACAAGTTCCCAGAGTCCTAGAGATGCTCCCGCCACCACGAA

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 56.70% 0.30% 6.60% 36.44% NA
All Indica  2759 34.20% 0.10% 10.29% 55.38% NA
All Japonica  1512 93.60% 0.50% 1.19% 4.76% NA
Aus  269 79.20% 0.00% 0.00% 20.82% NA
Indica I  595 19.30% 0.00% 9.58% 71.09% NA
Indica II  465 42.40% 0.00% 13.98% 43.66% NA
Indica III  913 41.70% 0.00% 9.86% 48.41% NA
Indica Intermediate  786 31.90% 0.40% 9.16% 58.52% NA
Temperate Japonica  767 88.40% 0.90% 2.22% 8.47% NA
Tropical Japonica  504 99.20% 0.00% 0.20% 0.60% NA
Japonica Intermediate  241 98.30% 0.00% 0.00% 1.66% NA
VI/Aromatic  96 49.00% 3.10% 9.38% 38.54% NA
Intermediate  90 66.70% 0.00% 1.11% 32.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0526267993 G -> DEL LOC_Os05g45250.1 N frameshift_variant Average:46.512; most accessible tissue: Minghui63 young leaf, score: 81.5 N N N N
vg0526267993 G -> A LOC_Os05g45250.1 missense_variant ; p.Cys150Tyr; MODERATE nonsynonymous_codon ; C150Y Average:46.512; most accessible tissue: Minghui63 young leaf, score: 81.5 unknown unknown DELETERIOUS 0.00

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)
vg0526267993 G A -0.02 -0.01 0.0 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0526267993 5.17E-06 2.02E-10 mr1354 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
vg0526267993 NA 8.91E-08 mr1829 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
vg0526267993 NA 7.97E-10 mr1354_2 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
vg0526267993 NA 6.53E-07 mr1679_2 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
vg0526267993 NA 8.68E-13 mr1829_2 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
vg0526267993 NA 6.69E-07 mr1842_2 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
vg0526267993 NA 8.38E-10 mr1902_2 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