Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0604760614:

Variant ID: vg0604760614 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 4760614
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.88, T: 0.12, others allele: 0.00, population size: 100. )

Flanking Sequence (100 bp) in Reference Genome:


CTCCTCACTCACCCCATCTCTTCCTCTTCCTCTTCCTCCTCCCATCTCTTCCTCTATCTCCTCTGGATCCGCCTCCTCCCCTCTCCTCTTCACTTCTCAA[T/C]
CTCCTTTGGATCTGCCCCCTCCTGTCTCCTCCCTACTTCTCAGGCGGCGGCGGCCGGGCGGCCACGGAGGCGGCCTCGCGCGGCCGGGAAGCGCGGAGGC

Reverse complement sequence

GCCTCCGCGCTTCCCGGCCGCGCGAGGCCGCCTCCGTGGCCGCCCGGCCGCCGCCGCCTGAGAAGTAGGGAGGAGACAGGAGGGGGCAGATCCAAAGGAG[A/G]
TTGAGAAGTGAAGAGGAGAGGGGAGGAGGCGGATCCAGAGGAGATAGAGGAAGAGATGGGAGGAGGAAGAGGAAGAGGAAGAGATGGGGTGAGTGAGGAG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 62.60% 37.40% 0.00% 0.00% NA
All Indica  2759 87.00% 13.00% 0.00% 0.00% NA
All Japonica  1512 28.60% 71.40% 0.00% 0.00% NA
Aus  269 4.50% 95.50% 0.00% 0.00% NA
Indica I  595 99.50% 0.50% 0.00% 0.00% NA
Indica II  465 68.40% 31.60% 0.00% 0.00% NA
Indica III  913 90.80% 9.20% 0.00% 0.00% NA
Indica Intermediate  786 84.10% 15.90% 0.00% 0.00% NA
Temperate Japonica  767 27.40% 72.60% 0.00% 0.00% NA
Tropical Japonica  504 24.00% 76.00% 0.00% 0.00% NA
Japonica Intermediate  241 41.90% 58.10% 0.00% 0.00% NA
VI/Aromatic  96 71.90% 28.10% 0.00% 0.00% NA
Intermediate  90 52.20% 47.80% 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
vg0604760614 T -> C LOC_Os06g09420.1 upstream_gene_variant ; 1390.0bp to feature; MODIFIER silent_mutation Average:70.841; most accessible tissue: Minghui63 young leaf, score: 83.419 N N N N
vg0604760614 T -> C LOC_Os06g09410.1 downstream_gene_variant ; 3248.0bp to feature; MODIFIER silent_mutation Average:70.841; most accessible tissue: Minghui63 young leaf, score: 83.419 N N N N
vg0604760614 T -> C LOC_Os06g09410-LOC_Os06g09420 intergenic_region ; MODIFIER silent_mutation Average:70.841; most accessible tissue: Minghui63 young leaf, score: 83.419 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)
vg0604760614 T C 0.0 0.0 -0.01 -0.01 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0604760614 NA 1.14E-11 mr1141 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
vg0604760614 NA 2.06E-08 mr1695 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
vg0604760614 NA 9.32E-11 mr1141_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