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Detailed information for vg1221121568:

Variant ID: vg1221121568 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 21121568
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.58, A: 0.42, others allele: 0.00, population size: 92. )

Flanking Sequence (100 bp) in Reference Genome:


AATTCCTGGCTATGAATATGGATATGTGCATATGTCCATATTCATAGCCAGGAATTGGTTCTTATTGGGACGGAGGGAGTACGCTGCGCTGAGCATGGCA[G/A]
CTTGCCGAGGAGACATTCACACGGTGGGGATGATAAGATGTCATGCACGCATATTGGCTCCATCACGAGTAGAGCAGTTAGATGGACCTCACTGTCTTTC

Reverse complement sequence

GAAAGACAGTGAGGTCCATCTAACTGCTCTACTCGTGATGGAGCCAATATGCGTGCATGACATCTTATCATCCCCACCGTGTGAATGTCTCCTCGGCAAG[C/T]
TGCCATGCTCAGCGCAGCGTACTCCCTCCGTCCCAATAAGAACCAATTCCTGGCTATGAATATGGACATATGCACATATCCATATTCATAGCCAGGAATT

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 53.10% 46.90% 0.02% 0.00% NA
All Indica  2759 52.60% 47.40% 0.04% 0.00% NA
All Japonica  1512 44.80% 55.20% 0.00% 0.00% NA
Aus  269 87.40% 12.60% 0.00% 0.00% NA
Indica I  595 21.50% 78.50% 0.00% 0.00% NA
Indica II  465 63.70% 36.10% 0.22% 0.00% NA
Indica III  913 65.70% 34.30% 0.00% 0.00% NA
Indica Intermediate  786 54.30% 45.70% 0.00% 0.00% NA
Temperate Japonica  767 76.00% 24.00% 0.00% 0.00% NA
Tropical Japonica  504 5.00% 95.00% 0.00% 0.00% NA
Japonica Intermediate  241 29.00% 71.00% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 61.10% 38.90% 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
vg1221121568 G -> A LOC_Os12g34790.1 upstream_gene_variant ; 1351.0bp to feature; MODIFIER silent_mutation Average:75.128; most accessible tissue: Zhenshan97 flower, score: 91.257 N N N N
vg1221121568 G -> A LOC_Os12g34780-LOC_Os12g34790 intergenic_region ; MODIFIER silent_mutation Average:75.128; most accessible tissue: Zhenshan97 flower, score: 91.257 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)
vg1221121568 G A 0.0 0.2 0.08 -0.02 0.24 0.23

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1221121568 NA 4.18E-17 Grain_length Jap_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
vg1221121568 NA 2.17E-08 mr1189_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
vg1221121568 NA 1.49E-09 mr1338_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
vg1221121568 NA 4.98E-06 mr1383_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
vg1221121568 NA 6.46E-08 mr1446_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
vg1221121568 NA 1.31E-09 mr1530_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
vg1221121568 4.89E-06 NA mr1613_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
vg1221121568 9.55E-06 NA mr1795_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
vg1221121568 NA 6.92E-07 mr1895_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
vg1221121568 NA 9.19E-07 mr1980_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