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Detailed information for vg0610115996:

Variant ID: vg0610115996 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 10115996
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.92, A: 0.08, others allele: 0.00, population size: 111. )

Flanking Sequence (100 bp) in Reference Genome:


GCATATGCCCAAGGGGGACGACTTTGCCGTAGCAAGTTGAGCCCCGGAAAGACCGAAGAAGCTTACCGAAGAAGCTATCCTGGCCCATCAAGCCTAATGG[C/A]
TAATTGGGCTGACAATCGCCTAACGGCCCGTTAGGGGCCCACGAACCTCAATTACACTATATACCCATGTAAATGTCCCTTTCATAAGGGCAACCATGTA

Reverse complement sequence

TACATGGTTGCCCTTATGAAAGGGACATTTACATGGGTATATAGTGTAATTGAGGTTCGTGGGCCCCTAACGGGCCGTTAGGCGATTGTCAGCCCAATTA[G/T]
CCATTAGGCTTGATGGGCCAGGATAGCTTCTTCGGTAAGCTTCTTCGGTCTTTCCGGGGCTCAACTTGCTACGGCAAAGTCGTCCCCCTTGGGCATATGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 67.10% 32.10% 0.25% 0.51% NA
All Indica  2759 50.40% 49.50% 0.11% 0.00% NA
All Japonica  1512 91.50% 6.50% 0.40% 1.52% NA
Aus  269 98.50% 1.50% 0.00% 0.00% NA
Indica I  595 79.30% 20.70% 0.00% 0.00% NA
Indica II  465 8.20% 91.60% 0.22% 0.00% NA
Indica III  913 53.20% 46.80% 0.00% 0.00% NA
Indica Intermediate  786 50.30% 49.50% 0.25% 0.00% NA
Temperate Japonica  767 92.80% 6.90% 0.00% 0.26% NA
Tropical Japonica  504 90.10% 5.00% 0.99% 3.97% NA
Japonica Intermediate  241 90.50% 8.70% 0.41% 0.41% NA
VI/Aromatic  96 84.40% 12.50% 3.12% 0.00% NA
Intermediate  90 57.80% 41.10% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0610115996 C -> A LOC_Os06g17440.1 upstream_gene_variant ; 4879.0bp to feature; MODIFIER silent_mutation Average:84.321; most accessible tissue: Zhenshan97 panicle, score: 93.752 N N N N
vg0610115996 C -> A LOC_Os06g17430-LOC_Os06g17440 intergenic_region ; MODIFIER silent_mutation Average:84.321; most accessible tissue: Zhenshan97 panicle, score: 93.752 N N N N
vg0610115996 C -> DEL N N silent_mutation Average:84.321; most accessible tissue: Zhenshan97 panicle, score: 93.752 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)
vg0610115996 C A -0.03 -0.03 -0.04 -0.03 -0.04 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0610115996 NA 8.26E-06 mr1104 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
vg0610115996 NA 3.22E-07 mr1155 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
vg0610115996 NA 3.56E-06 mr1749 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
vg0610115996 NA 8.69E-06 mr1860 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
vg0610115996 NA 1.03E-06 mr1126_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
vg0610115996 NA 9.37E-10 mr1155_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
vg0610115996 NA 4.66E-06 mr1246_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
vg0610115996 NA 4.53E-07 mr1860_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
vg0610115996 NA 3.66E-06 mr1928_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
vg0610115996 NA 2.33E-09 mr1931_2 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
vg0610115996 NA 4.68E-08 mr1942_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