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Detailed information for vg0823967453:

Variant ID: vg0823967453 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 23967453
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: 245. )

Flanking Sequence (100 bp) in Reference Genome:


GGTTAAATTATTTTGAAACGAAATGAGCACTGCACACTATAATATAAGTTAGGACGGACCATAACTTAACCTAGTACAATAAATTTGGACAGATTATATC[C/T]
CATTCAATCTAAGTTGGTTTATTTCGGTGATGAAGAGAATAGTCATTAAATCACGGTTACACATACTTTATCCATCCTCTAAAACCAAATTTCACATAAG

Reverse complement sequence

CTTATGTGAAATTTGGTTTTAGAGGATGGATAAAGTATGTGTAACCGTGATTTAATGACTATTCTCTTCATCACCGAAATAAACCAACTTAGATTGAATG[G/A]
GATATAATCTGTCCAAATTTATTGTACTAGGTTAAGTTATGGTCCGTCCTAACTTATATTATAGTGTGCAGTGCTCATTTCGTTTCAAAATAATTTAACC

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 96.80% 1.90% 1.29% 0.00% NA
All Indica  2759 99.00% 0.00% 0.94% 0.00% NA
All Japonica  1512 92.10% 5.70% 2.25% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.50% 0.00% 1.51% 0.00% NA
Indica II  465 98.90% 0.00% 1.08% 0.00% NA
Indica III  913 99.90% 0.00% 0.11% 0.00% NA
Indica Intermediate  786 98.50% 0.10% 1.40% 0.00% NA
Temperate Japonica  767 84.70% 11.10% 4.17% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 0.40% 0.83% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 97.80% 1.10% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0823967453 C -> T LOC_Os08g37830.1 downstream_gene_variant ; 1048.0bp to feature; MODIFIER silent_mutation Average:54.161; most accessible tissue: Minghui63 panicle, score: 91.919 N N N N
vg0823967453 C -> T LOC_Os08g37840.1 downstream_gene_variant ; 1892.0bp to feature; MODIFIER silent_mutation Average:54.161; most accessible tissue: Minghui63 panicle, score: 91.919 N N N N
vg0823967453 C -> T LOC_Os08g37820-LOC_Os08g37830 intergenic_region ; MODIFIER silent_mutation Average:54.161; most accessible tissue: Minghui63 panicle, score: 91.919 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)
vg0823967453 C T 0.0 -0.01 -0.01 -0.02 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0823967453 1.23E-20 1.17E-26 Awn_length Jap_All YES Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0823967453 NA 3.58E-12 Heading_date Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0823967453 NA 3.20E-07 mr1354 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
vg0823967453 NA 3.25E-07 mr1354_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
vg0823967453 NA 4.28E-08 mr1549_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
vg0823967453 NA 2.98E-08 mr1624_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
vg0823967453 NA 7.45E-09 mr1757_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
vg0823967453 NA 3.70E-07 mr1829_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
vg0823967453 NA 1.27E-06 mr1902_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