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Detailed information for vg1205756282:

Variant ID: vg1205756282 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 5756282
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.55, T: 0.45, others allele: 0.00, population size: 84. )

Flanking Sequence (100 bp) in Reference Genome:


TAGAATTTACTATTTGCCACTCTCTCAAAATAACCAGTGCTCAAATGCCACTCTCCCAAATTTTCATTCTCAAATACCACTCGGGCCCACATGTCAGCCT[T/C]
ACTCATTATCGGGTCCCGCATCACTTTTGTTTGAATGGAGAGTGAGGCTGACATGTGGGCCCGGGTGGCATTTGGGAATGAAAATTTGGGAGAGTGGCAT

Reverse complement sequence

ATGCCACTCTCCCAAATTTTCATTCCCAAATGCCACCCGGGCCCACATGTCAGCCTCACTCTCCATTCAAACAAAAGTGATGCGGGACCCGATAATGAGT[A/G]
AGGCTGACATGTGGGCCCGAGTGGTATTTGAGAATGAAAATTTGGGAGAGTGGCATTTGAGCACTGGTTATTTTGAGAGAGTGGCAAATAGTAAATTCTA

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 34.40% 27.40% 10.94% 27.30% NA
All Indica  2759 3.20% 42.20% 17.94% 36.68% NA
All Japonica  1512 93.10% 3.90% 0.99% 1.98% NA
Aus  269 29.40% 11.50% 0.37% 58.74% NA
Indica I  595 1.70% 53.60% 20.67% 24.03% NA
Indica II  465 3.00% 31.40% 23.01% 42.58% NA
Indica III  913 1.90% 41.20% 13.80% 43.15% NA
Indica Intermediate  786 5.90% 41.20% 17.68% 35.24% NA
Temperate Japonica  767 89.20% 6.80% 1.96% 2.09% NA
Tropical Japonica  504 97.20% 0.40% 0.00% 2.38% NA
Japonica Intermediate  241 97.10% 2.10% 0.00% 0.83% NA
VI/Aromatic  96 4.20% 27.10% 0.00% 68.75% NA
Intermediate  90 52.20% 14.40% 6.67% 26.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1205756282 T -> C LOC_Os12g10710.1 upstream_gene_variant ; 3288.0bp to feature; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> C LOC_Os12g10720.1 upstream_gene_variant ; 154.0bp to feature; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> C LOC_Os12g10730.1 upstream_gene_variant ; 3927.0bp to feature; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> C LOC_Os12g10720.2 upstream_gene_variant ; 154.0bp to feature; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> C LOC_Os12g10720.3 upstream_gene_variant ; 185.0bp to feature; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> C LOC_Os12g10730.2 upstream_gene_variant ; 4184.0bp to feature; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> C LOC_Os12g10710-LOC_Os12g10720 intergenic_region ; MODIFIER silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 N N N N
vg1205756282 T -> DEL N N silent_mutation Average:95.54; most accessible tissue: Minghui63 young leaf, score: 98.059 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)
vg1205756282 T C 0.08 0.14 0.11 0.04 0.06 0.07

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1205756282 NA 6.29E-08 mr1648 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
vg1205756282 NA 7.59E-08 mr1666 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
vg1205756282 NA 1.06E-12 mr1744 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
vg1205756282 NA 2.62E-11 mr1938 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
vg1205756282 1.60E-06 2.14E-07 mr1068_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
vg1205756282 2.11E-06 2.90E-06 mr1094_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
vg1205756282 7.73E-06 7.73E-06 mr1108_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
vg1205756282 8.74E-07 1.23E-06 mr1112_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
vg1205756282 NA 7.06E-22 mr1253_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
vg1205756282 NA 6.10E-16 mr1578_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
vg1205756282 NA 2.09E-12 mr1666_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
vg1205756282 NA 8.50E-11 mr1761_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
vg1205756282 NA 2.17E-07 mr1819_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
vg1205756282 NA 1.06E-14 mr1938_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