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Detailed information for vg0801556836:

Variant ID: vg0801556836 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 1556836
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAGAGGTCTGCACCTCCCAAAAGTCAGCAAAGATGGCCACGCCTGATAATTCAGATTCAGAGTCAAGGAGGAGGAGTACAACTCTACTCAACTTGCTGTT[T/C]
ATGACAGTGACTTGTTTAATTCGCTCGTTTTCCTTAAAGTGGGATCAACTTAAATTTAGAGTTGATTTTTGTTTTTTTTATCGTAGTTTATTTTTCAGCC

Reverse complement sequence

GGCTGAAAAATAAACTACGATAAAAAAAACAAAAATCAACTCTAAATTTAAGTTGATCCCACTTTAAGGAAAACGAGCGAATTAAACAAGTCACTGTCAT[A/G]
AACAGCAAGTTGAGTAGAGTTGTACTCCTCCTCCTTGACTCTGAATCTGAATTATCAGGCGTGGCCATCTTTGCTGACTTTTGGGAGGTGCAGACCTCTG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 51.20% 48.60% 0.19% 0.00% NA
All Indica  2759 19.10% 80.70% 0.25% 0.00% NA
All Japonica  1512 97.80% 2.20% 0.00% 0.00% NA
Aus  269 98.90% 1.10% 0.00% 0.00% NA
Indica I  595 7.20% 92.60% 0.17% 0.00% NA
Indica II  465 4.90% 94.80% 0.22% 0.00% NA
Indica III  913 28.90% 71.00% 0.11% 0.00% NA
Indica Intermediate  786 24.90% 74.60% 0.51% 0.00% NA
Temperate Japonica  767 96.90% 3.10% 0.00% 0.00% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 97.90% 2.10% 0.00% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 0.00% 0.00% NA
Intermediate  90 63.30% 34.40% 2.22% 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
vg0801556836 T -> C LOC_Os08g03350.1 upstream_gene_variant ; 4918.0bp to feature; MODIFIER silent_mutation Average:91.01; most accessible tissue: Zhenshan97 root, score: 98.685 N N N N
vg0801556836 T -> C LOC_Os08g03330-LOC_Os08g03350 intergenic_region ; MODIFIER silent_mutation Average:91.01; most accessible tissue: Zhenshan97 root, score: 98.685 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)
vg0801556836 T C 0.09 0.05 0.02 -0.02 0.03 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0801556836 NA 5.58E-26 mr1003 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
vg0801556836 NA 5.02E-06 mr1003 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
vg0801556836 NA 3.36E-25 mr1051 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
vg0801556836 NA 9.82E-18 mr1255 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
vg0801556836 NA 1.05E-14 mr1261 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
vg0801556836 NA 1.34E-09 mr1352 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
vg0801556836 NA 3.47E-30 mr1051_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
vg0801556836 NA 4.12E-07 mr1051_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
vg0801556836 NA 2.55E-22 mr1877_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