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Detailed information for vg1111145602:

Variant ID: vg1111145602 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 11145602
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCAGCGTCGCTCGCCAACCGTCACCATCGAAGCCACCGCCGCCGGCTCGCTGATCATCATCGAAACTATCACCACCGCCCGCTTCCTAGCGCTGCTCGCC[G/A]
CTGCCTCCATCACCACAGTCGTCGGGCTCATCAACCATCATCGAAGCAGCCGCCGCCGCCCGCTGCTGCATCCTCTGTCACCTCCGCCGCCGCCTCCACA

Reverse complement sequence

TGTGGAGGCGGCGGCGGAGGTGACAGAGGATGCAGCAGCGGGCGGCGGCGGCTGCTTCGATGATGGTTGATGAGCCCGACGACTGTGGTGATGGAGGCAG[C/T]
GGCGAGCAGCGCTAGGAAGCGGGCGGTGGTGATAGTTTCGATGATGATCAGCGAGCCGGCGGCGGTGGCTTCGATGGTGACGGTTGGCGAGCGACGCTGG

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 75.30% 23.40% 1.35% 0.00% NA
All Indica  2759 59.40% 38.30% 2.28% 0.00% NA
All Japonica  1512 97.50% 2.50% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 41.30% 53.30% 5.38% 0.00% NA
Indica II  465 63.20% 34.40% 2.37% 0.00% NA
Indica III  913 67.70% 31.80% 0.55% 0.00% NA
Indica Intermediate  786 61.30% 36.80% 1.91% 0.00% NA
Temperate Japonica  767 99.50% 0.50% 0.00% 0.00% NA
Tropical Japonica  504 93.70% 6.30% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 87.80% 11.10% 1.11% 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
vg1111145602 G -> A LOC_Os11g19370.1 downstream_gene_variant ; 38.0bp to feature; MODIFIER silent_mutation Average:68.509; most accessible tissue: Zhenshan97 flag leaf, score: 83.684 N N N N
vg1111145602 G -> A LOC_Os11g19360-LOC_Os11g19370 intergenic_region ; MODIFIER silent_mutation Average:68.509; most accessible tissue: Zhenshan97 flag leaf, score: 83.684 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)
vg1111145602 G A 0.0 0.0 0.0 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1111145602 NA 2.10E-06 mr1154 Ind_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
vg1111145602 NA 1.87E-06 mr1154_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