Search for Variation information by Variation ID:

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

Detailed information for vg0419529348:

Variant ID: vg0419529348 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 19529348
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACTAGAGAGATTGACGAAGTCACCACAGGCGCCTCGCTGTCGACGGGTACGTCGCCTTTTAATTATTTTAATTATTAATTACTCAGAAGAGAGCTCTATC[G/A]
GCTTGTTTGGTAACTCGAGGGAAAGGGATTGGGAGTTTACACGAGGGAATTGATGATGAGATTAAGATGGGAATTTGATTTTTAATCCTAATATCTTGTT

Reverse complement sequence

AACAAGATATTAGGATTAAAAATCAAATTCCCATCTTAATCTCATCATCAATTCCCTCGTGTAAACTCCCAATCCCTTTCCCTCGAGTTACCAAACAAGC[C/T]
GATAGAGCTCTCTTCTGAGTAATTAATAATTAAAATAATTAAAAGGCGACGTACCCGTCGACAGCGAGGCGCCTGTGGTGACTTCGTCAATCTCTCTAGT

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 96.80% 2.00% 1.21% 0.00% NA
All Indica  2759 99.60% 0.10% 0.29% 0.00% NA
All Japonica  1512 91.00% 6.00% 3.04% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.80% 0.00% 1.18% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.50% 0.40% 0.13% 0.00% NA
Temperate Japonica  767 94.00% 2.30% 3.65% 0.00% NA
Tropical Japonica  504 96.60% 2.40% 0.99% 0.00% NA
Japonica Intermediate  241 69.70% 24.90% 5.39% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 95.60% 1.10% 3.33% 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
vg0419529348 G -> A LOC_Os04g32490-LOC_Os04g32500 intergenic_region ; MODIFIER silent_mutation Average:47.564; most accessible tissue: Minghui63 panicle, score: 91.41 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)
vg0419529348 G A 0.02 0.01 0.0 0.01 0.04 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0419529348 1.15E-06 1.15E-06 mr1108_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
vg0419529348 5.94E-06 3.95E-06 mr1112_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