Search for Variation information by Variation ID:

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

Detailed information for vg1209676708:

Variant ID: vg1209676708 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 9676708
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.94, T: 0.06, others allele: 0.00, population size: 80. )

Flanking Sequence (100 bp) in Reference Genome:


TACTGTTATGAGACATTAACCGTGCCAACCACAAGCCAGCGTGGGCAACGACTTTACCTTTTGTATAGCATAGTTCATTATGGGGTGCCAGACTGAGAAG[T/C]
GGCGAGAAATCCGTGGGGGTCGCTGGGGAGTCCATGCCTCGGTGATTATAATCCAGGTATGATGCACTGTGGTGAGTTGTGTTGTGCGAGGGGTATTGCC

Reverse complement sequence

GGCAATACCCCTCGCACAACACAACTCACCACAGTGCATCATACCTGGATTATAATCACCGAGGCATGGACTCCCCAGCGACCCCCACGGATTTCTCGCC[A/G]
CTTCTCAGTCTGGCACCCCATAATGAACTATGCTATACAAAAGGTAAAGTCGTTGCCCACGCTGGCTTGTGGTTGGCACGGTTAATGTCTCATAACAGTA

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 38.90% 38.00% 3.28% 19.76% NA
All Indica  2759 23.80% 41.20% 5.26% 29.72% NA
All Japonica  1512 74.20% 22.40% 0.33% 3.04% NA
Aus  269 2.20% 81.00% 0.74% 15.99% NA
Indica I  595 29.40% 55.60% 2.52% 12.44% NA
Indica II  465 32.30% 39.10% 3.01% 25.59% NA
Indica III  913 14.90% 30.20% 9.42% 45.45% NA
Indica Intermediate  786 24.90% 44.30% 3.82% 26.97% NA
Temperate Japonica  767 84.90% 9.40% 0.65% 5.08% NA
Tropical Japonica  504 66.70% 32.10% 0.00% 1.19% NA
Japonica Intermediate  241 56.00% 43.60% 0.00% 0.41% NA
VI/Aromatic  96 11.50% 66.70% 1.04% 20.83% NA
Intermediate  90 48.90% 43.30% 2.22% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1209676708 T -> C LOC_Os12g16870.1 upstream_gene_variant ; 1093.0bp to feature; MODIFIER silent_mutation Average:66.908; most accessible tissue: Minghui63 flag leaf, score: 87.326 N N N N
vg1209676708 T -> C LOC_Os12g16860.1 downstream_gene_variant ; 4675.0bp to feature; MODIFIER silent_mutation Average:66.908; most accessible tissue: Minghui63 flag leaf, score: 87.326 N N N N
vg1209676708 T -> C LOC_Os12g16870-LOC_Os12g16880 intergenic_region ; MODIFIER silent_mutation Average:66.908; most accessible tissue: Minghui63 flag leaf, score: 87.326 N N N N
vg1209676708 T -> DEL N N silent_mutation Average:66.908; most accessible tissue: Minghui63 flag leaf, score: 87.326 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)
vg1209676708 T C 0.01 0.01 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1209676708 NA 8.00E-06 mr1177 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
vg1209676708 3.66E-06 NA mr1196 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
vg1209676708 NA 1.38E-06 mr1229 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
vg1209676708 NA 1.38E-06 mr1271 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
vg1209676708 NA 3.21E-06 mr1377 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
vg1209676708 6.60E-06 NA mr1412 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
vg1209676708 3.43E-07 1.20E-07 mr1425 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
vg1209676708 2.59E-08 9.70E-12 mr1425 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
vg1209676708 2.36E-06 NA mr1689 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
vg1209676708 NA 1.12E-06 mr1425_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
vg1209676708 NA 5.50E-07 mr1425_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