Search for Variation information by Variation ID:

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

Detailed information for vg1124910912:

Variant ID: vg1124910912 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 24910912
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 291. )

Flanking Sequence (100 bp) in Reference Genome:


CGCGTCAATATGAAAGATCGATGAAGCTAGGGCGCGCTGGCATACACCGAGAGATCGTCATGGCCAGCCGCCGTCGCTAGGTTTGGAACAGGCTCCATCG[C/T]
TGTTTAAAAATCCCACCTGCGCCGTGTTCCCATCTGCTAATGGCTGAACGATTGATACAAGGATAATGATCGGTTGTTGATTGGATGCATCCACATATAC

Reverse complement sequence

GTATATGTGGATGCATCCAATCAACAACCGATCATTATCCTTGTATCAATCGTTCAGCCATTAGCAGATGGGAACACGGCGCAGGTGGGATTTTTAAACA[G/A]
CGATGGAGCCTGTTCCAAACCTAGCGACGGCGGCTGGCCATGACGATCTCTCGGTGTATGCCAGCGCGCCCTAGCTTCATCGATCTTTCATATTGACGCG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.50% 0.10% 0.38% 9.01% NA
All Indica  2759 86.60% 0.10% 0.62% 12.69% NA
All Japonica  1512 99.50% 0.00% 0.00% 0.46% NA
Aus  269 74.70% 0.00% 0.37% 24.91% NA
Indica I  595 79.80% 0.00% 0.67% 19.50% NA
Indica II  465 65.80% 0.00% 2.58% 31.61% NA
Indica III  913 98.80% 0.10% 0.00% 1.10% NA
Indica Intermediate  786 89.70% 0.40% 0.13% 9.80% NA
Temperate Japonica  767 99.50% 0.00% 0.00% 0.52% NA
Tropical Japonica  504 99.60% 0.00% 0.00% 0.40% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 97.80% 0.00% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1124910912 C -> T LOC_Os11g41530.1 upstream_gene_variant ; 2851.0bp to feature; MODIFIER silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 N N N N
vg1124910912 C -> T LOC_Os11g41540.1 upstream_gene_variant ; 589.0bp to feature; MODIFIER silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 N N N N
vg1124910912 C -> T LOC_Os11g41540.2 upstream_gene_variant ; 589.0bp to feature; MODIFIER silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 N N N N
vg1124910912 C -> T LOC_Os11g41540.3 upstream_gene_variant ; 589.0bp to feature; MODIFIER silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 N N N N
vg1124910912 C -> T LOC_Os11g41540.4 upstream_gene_variant ; 589.0bp to feature; MODIFIER silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 N N N N
vg1124910912 C -> T LOC_Os11g41530-LOC_Os11g41540 intergenic_region ; MODIFIER silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 N N N N
vg1124910912 C -> DEL N N silent_mutation Average:44.423; most accessible tissue: Minghui63 root, score: 92.561 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)
vg1124910912 C T 0.3 0.01 -0.01 -0.02 -0.01 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1124910912 NA 7.58E-08 mr1133 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
vg1124910912 2.98E-06 9.97E-08 mr1238 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
vg1124910912 NA 2.94E-06 mr1309 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
vg1124910912 NA 1.88E-06 mr1841 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
vg1124910912 3.72E-07 2.93E-09 mr1238_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
vg1124910912 NA 4.17E-06 mr1380_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
vg1124910912 NA 4.39E-06 mr1380_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
vg1124910912 1.99E-06 7.17E-08 mr1484_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
vg1124910912 NA 3.07E-08 mr1841_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
vg1124910912 NA 2.28E-08 mr1900_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