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Detailed information for vg0720705444:

Variant ID: vg0720705444 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 20705444
Reference Allele: AAlternative Allele: T,G
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.64, A: 0.36, others allele: 0.00, population size: 97. )

Flanking Sequence (100 bp) in Reference Genome:


GCCAGACGAGGCAGATGGTTCAAGTCGCGTCGTTCCTGACGTCCAGTTGTCCAGGTGGCTTGCACGGATGGTGAGCAACCACACCGTACCATCCTGGCGA[A/T,G]
TTGCACTCACGAGGCTCGCCATCATCCGGACATGAAAACAGAAAATACTAGCGCATTAATCTGTAAATTAGAAATCAATCTAATAACAAGAACGGATTGG

Reverse complement sequence

CCAATCCGTTCTTGTTATTAGATTGATTTCTAATTTACAGATTAATGCGCTAGTATTTTCTGTTTTCATGTCCGGATGATGGCGAGCCTCGTGAGTGCAA[T/A,C]
TCGCCAGGATGGTACGGTGTGGTTGCTCACCATCCGTGCAAGCCACCTGGACAACTGGACGTCAGGAACGACGCGACTTGAACCATCTGCCTCGTCTGGC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 34.60% 8.90% 4.49% 52.01% G: 0.02%
All Indica  2759 22.00% 2.00% 1.12% 74.85% NA
All Japonica  1512 47.80% 22.90% 11.71% 17.53% G: 0.07%
Aus  269 94.40% 0.70% 0.37% 4.46% NA
Indica I  595 11.10% 1.50% 1.34% 86.05% NA
Indica II  465 6.70% 3.70% 0.43% 89.25% NA
Indica III  913 33.70% 1.50% 0.55% 64.18% NA
Indica Intermediate  786 25.70% 2.00% 2.04% 70.23% NA
Temperate Japonica  767 29.10% 38.10% 15.38% 17.34% G: 0.13%
Tropical Japonica  504 75.20% 5.20% 4.56% 15.08% NA
Japonica Intermediate  241 50.20% 11.60% 14.94% 23.24% NA
VI/Aromatic  96 16.70% 3.10% 1.04% 79.17% NA
Intermediate  90 37.80% 15.60% 2.22% 44.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0720705444 A -> DEL LOC_Os07g34529.1 N frameshift_variant Average:81.07; most accessible tissue: Zhenshan97 panicle, score: 96.702 N N N N
vg0720705444 A -> G LOC_Os07g34529.1 missense_variant ; p.Ile9Thr; MODERATE nonsynonymous_codon ; I9T Average:81.07; most accessible tissue: Zhenshan97 panicle, score: 96.702 unknown unknown TOLERATED 0.47
vg0720705444 A -> T LOC_Os07g34529.1 missense_variant ; p.Ile9Asn; MODERATE nonsynonymous_codon ; I9N Average:81.07; most accessible tissue: Zhenshan97 panicle, score: 96.702 unknown unknown TOLERATED 0.33

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)
vg0720705444 A G 0.08 0.15 0.07 0.03 0.1 0.08
vg0720705444 A T 0.01 0.06 0.03 0.02 0.06 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0720705444 NA 6.48E-06 mr1002 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
vg0720705444 NA 5.04E-06 mr1006 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
vg0720705444 NA 3.20E-06 mr1013 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
vg0720705444 NA 2.42E-06 mr1045 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
vg0720705444 NA 6.98E-06 mr1077 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
vg0720705444 NA 1.65E-09 mr1578 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
vg0720705444 NA 4.72E-06 mr1727 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
vg0720705444 NA 7.76E-06 mr1045_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
vg0720705444 NA 6.54E-19 mr1870_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