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Detailed information for vg1200449391:

Variant ID: vg1200449391 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 449391
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCCAAACACCACCTTAATAAGCGTTAGATTAACTGCGGGCCCTGCAGATCCACTCATCGATTTTTGCAGAAATCCCCTCATTATTTCGGTATTTCCAGTC[C/G]
AGTCCACTGAATCAGAGCCGTTCAACCCCACGCGTGGACACAATCTGACCGTTCGTCTCCTATCTATATGGCTCCGTCCTTACCTACCCGTGGAATCGGT

Reverse complement sequence

ACCGATTCCACGGGTAGGTAAGGACGGAGCCATATAGATAGGAGACGAACGGTCAGATTGTGTCCACGCGTGGGGTTGAACGGCTCTGATTCAGTGGACT[G/C]
GACTGGAAATACCGAAATAATGAGGGGATTTCTGCAAAAATCGATGAGTGGATCTGCAGGGCCCGCAGTTAATCTAACGCTTATTAAGGTGGTGTTTGGA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.70% 10.20% 0.08% 0.00% NA
All Indica  2759 87.80% 12.10% 0.11% 0.00% NA
All Japonica  1512 99.50% 0.50% 0.00% 0.00% NA
Aus  269 49.80% 49.80% 0.37% 0.00% NA
Indica I  595 90.80% 9.20% 0.00% 0.00% NA
Indica II  465 97.40% 2.40% 0.22% 0.00% NA
Indica III  913 84.00% 16.00% 0.00% 0.00% NA
Indica Intermediate  786 84.20% 15.50% 0.25% 0.00% NA
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.40% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.80% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 92.20% 7.80% 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
vg1200449391 C -> G LOC_Os12g01744.1 upstream_gene_variant ; 95.0bp to feature; MODIFIER silent_mutation Average:97.251; most accessible tissue: Minghui63 panicle, score: 99.278 N N N N
vg1200449391 C -> G LOC_Os12g01740-LOC_Os12g01744 intergenic_region ; MODIFIER silent_mutation Average:97.251; most accessible tissue: Minghui63 panicle, score: 99.278 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)
vg1200449391 C G -0.04 -0.03 -0.01 -0.04 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1200449391 NA 5.89E-07 Awn_length Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg1200449391 NA 4.01E-08 mr1066 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
vg1200449391 1.73E-06 NA mr1113 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
vg1200449391 8.42E-06 NA mr1116 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