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Detailed information for vg0803364457:

Variant ID: vg0803364457 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 3364457
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.01, others allele: 0.00, population size: 318. )

Flanking Sequence (100 bp) in Reference Genome:


CTTGGATGGTGATAGTGATACACTGGTGTTTGTAGCTGCTACATCAAACTGAATGAAACTGAATTTGAAGTAACAATTCAAATAGGAATGTGATTCCTTA[T/C]
GACTCTTCAGCTGTATAAGATAATTCATTGTTGAAACCCTATTAAGTGTTATTGCCTTTTAGCGACCTCACCTCACTTCAATTTGTTTGATTGTGAACTT

Reverse complement sequence

AAGTTCACAATCAAACAAATTGAAGTGAGGTGAGGTCGCTAAAAGGCAATAACACTTAATAGGGTTTCAACAATGAATTATCTTATACAGCTGAAGAGTC[A/G]
TAAGGAATCACATTCCTATTTGAATTGTTACTTCAAATTCAGTTTCATTCAGTTTGATGTAGCAGCTACAAACACCAGTGTATCACTATCACCATCCAAG

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 85.70% 14.30% 0.00% 0.00% NA
All Indica  2759 99.90% 0.10% 0.00% 0.00% NA
All Japonica  1512 55.90% 44.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.30% 0.00% 0.00% NA
Temperate Japonica  767 27.80% 72.20% 0.00% 0.00% NA
Tropical Japonica  504 90.90% 9.10% 0.00% 0.00% NA
Japonica Intermediate  241 72.20% 27.80% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 93.30% 6.70% 0.00% 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
vg0803364457 T -> C LOC_Os08g06110.2 upstream_gene_variant ; 1462.0bp to feature; MODIFIER silent_mutation Average:59.444; most accessible tissue: Minghui63 flag leaf, score: 90.43 N N N N
vg0803364457 T -> C LOC_Os08g06110.3 upstream_gene_variant ; 1273.0bp to feature; MODIFIER silent_mutation Average:59.444; most accessible tissue: Minghui63 flag leaf, score: 90.43 N N N N
vg0803364457 T -> C LOC_Os08g06110.5 upstream_gene_variant ; 1419.0bp to feature; MODIFIER silent_mutation Average:59.444; most accessible tissue: Minghui63 flag leaf, score: 90.43 N N N N
vg0803364457 T -> C LOC_Os08g06110.4 upstream_gene_variant ; 1471.0bp to feature; MODIFIER silent_mutation Average:59.444; most accessible tissue: Minghui63 flag leaf, score: 90.43 N N N N
vg0803364457 T -> C LOC_Os08g06100-LOC_Os08g06110 intergenic_region ; MODIFIER silent_mutation Average:59.444; most accessible tissue: Minghui63 flag leaf, score: 90.43 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)
vg0803364457 T C 0.01 0.02 0.02 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0803364457 NA 1.15E-09 Heading_date 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
vg0803364457 NA 2.91E-11 Plant_height 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
vg0803364457 NA 7.25E-17 Spikelet_length 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
vg0803364457 NA 9.83E-13 Spikelet_length 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
vg0803364457 NA 1.58E-06 mr1011 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
vg0803364457 NA 9.28E-08 mr1252 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
vg0803364457 NA 7.39E-08 mr1252 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
vg0803364457 NA 4.74E-06 mr1561 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
vg0803364457 NA 4.00E-06 mr1788 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
vg0803364457 2.80E-06 2.80E-06 mr1935 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
vg0803364457 NA 1.32E-07 mr1748_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