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

Detailed information for vg0616961888:

Variant ID: vg0616961888 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 16961888
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGAAGAGATGGCTTGCATGGGAGGGGATCGAGATGGCGCACGCGGCGCGGGAGATCGAGCGCCATCGCGCGGGATCGCGCGGGAAGGGCGGAGATCGGGC[G/A]
GGCGCTGGGGTGGAGGGGATGGGGATCTCGATTGGCTATGGTGGGGGAATGGATCGGCTGCAGTGAGTGGGGTCCACAAATCGCGTTTTTTATTGCTGAG

Reverse complement sequence

CTCAGCAATAAAAAACGCGATTTGTGGACCCCACTCACTGCAGCCGATCCATTCCCCCACCATAGCCAATCGAGATCCCCATCCCCTCCACCCCAGCGCC[C/T]
GCCCGATCTCCGCCCTTCCCGCGCGATCCCGCGCGATGGCGCTCGATCTCCCGCGCCGCGTGCGCCATCTCGATCCCCTCCCATGCAAGCCATCTCTTCC

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 66.90% 5.60% 0.89% 26.51% NA
All Indica  2759 55.30% 0.50% 1.38% 42.84% NA
All Japonica  1512 87.90% 10.60% 0.00% 1.52% NA
Aus  269 84.80% 1.90% 0.37% 13.01% NA
Indica I  595 88.10% 0.00% 0.84% 11.09% NA
Indica II  465 81.10% 1.50% 0.65% 16.77% NA
Indica III  913 14.70% 0.40% 1.64% 83.24% NA
Indica Intermediate  786 62.50% 0.30% 1.91% 35.37% NA
Temperate Japonica  767 97.90% 0.30% 0.00% 1.83% NA
Tropical Japonica  504 70.60% 28.00% 0.00% 1.39% NA
Japonica Intermediate  241 92.10% 7.10% 0.00% 0.83% NA
VI/Aromatic  96 18.80% 81.20% 0.00% 0.00% NA
Intermediate  90 70.00% 12.20% 3.33% 14.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0616961888 G -> A LOC_Os06g29580.1 upstream_gene_variant ; 2691.0bp to feature; MODIFIER silent_mutation Average:73.075; most accessible tissue: Zhenshan97 young leaf, score: 89.772 N N N N
vg0616961888 G -> A LOC_Os06g29590.1 upstream_gene_variant ; 36.0bp to feature; MODIFIER silent_mutation Average:73.075; most accessible tissue: Zhenshan97 young leaf, score: 89.772 N N N N
vg0616961888 G -> A LOC_Os06g29590-LOC_Os06g29600 intergenic_region ; MODIFIER silent_mutation Average:73.075; most accessible tissue: Zhenshan97 young leaf, score: 89.772 N N N N
vg0616961888 G -> DEL N N silent_mutation Average:73.075; most accessible tissue: Zhenshan97 young leaf, score: 89.772 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)
vg0616961888 G A -0.02 -0.02 -0.01 -0.01 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0616961888 NA 7.28E-08 mr1930 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
vg0616961888 4.69E-06 NA mr1070_2 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
vg0616961888 1.12E-09 NA mr1082_2 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
vg0616961888 1.56E-09 NA mr1083_2 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
vg0616961888 7.04E-07 NA mr1085_2 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
vg0616961888 2.03E-06 NA mr1103_2 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
vg0616961888 1.38E-06 NA mr1104_2 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
vg0616961888 2.01E-06 NA mr1107_2 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
vg0616961888 9.37E-07 NA mr1145_2 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
vg0616961888 7.15E-07 NA mr1226_2 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
vg0616961888 2.77E-07 1.05E-08 mr1408_2 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