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Detailed information for vg0802053469:

Variant ID: vg0802053469 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 2053469
Reference Allele: TAlternative Allele: G
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGCGGGCAGCACGAAGTCGAGCGGTGAGGTCGGCTATGAGGAGGCAGCGGTGAGGTGCTCCTGCCGCTCGTGGAGCTCATGGCGGGTGGCGAGGAGGCGG[T/G]
CGGAGAGGCCTAGGGATGAGGAGAGCGGCGCGAGCGCCGAAGCGAGAGAGGAAAGGGGAGAGAGATGAAGAGATGGGAGATGGGGAGAGAGAGGAGGAAG

Reverse complement sequence

CTTCCTCCTCTCTCTCCCCATCTCCCATCTCTTCATCTCTCTCCCCTTTCCTCTCTCGCTTCGGCGCTCGCGCCGCTCTCCTCATCCCTAGGCCTCTCCG[A/C]
CCGCCTCCTCGCCACCCGCCATGAGCTCCACGAGCGGCAGGAGCACCTCACCGCTGCCTCCTCATAGCCGACCTCACCGCTCGACTTCGTGCTGCCCGCG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 99.20% 0.30% 0.28% 0.25% NA
All Indica  2759 98.60% 0.50% 0.47% 0.36% NA
All Japonica  1512 99.90% 0.00% 0.00% 0.07% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.50% 0.30% 0.67% 0.50% NA
Indica II  465 97.00% 0.60% 1.08% 1.29% NA
Indica III  913 99.50% 0.40% 0.11% 0.00% NA
Indica Intermediate  786 98.70% 0.80% 0.38% 0.13% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% 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 98.90% 0.00% 0.00% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0802053469 T -> G LOC_Os08g04220.1 upstream_gene_variant ; 4459.0bp to feature; MODIFIER N Average:80.94; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0802053469 T -> G LOC_Os08g04210.1 downstream_gene_variant ; 719.0bp to feature; MODIFIER N Average:80.94; most accessible tissue: Minghui63 panicle, score: 94.638 N N N N
vg0802053469 T -> G LOC_Os08g04200-LOC_Os08g04210 intergenic_region ; MODIFIER N Average:80.94; most accessible tissue: Minghui63 panicle, score: 94.638 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)
vg0802053469 T G 0.01 0.01 0.0 0.0 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0802053469 8.47E-08 3.97E-10 Heading_date Ind_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
vg0802053469 NA 1.31E-35 mr1828 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
vg0802053469 NA 3.92E-15 mr1870 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
vg0802053469 NA 2.81E-19 mr1131_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
vg0802053469 NA 5.71E-18 mr1199_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
vg0802053469 NA 1.21E-27 mr1270_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
vg0802053469 NA 1.19E-39 mr1745_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
vg0802053469 NA 4.49E-73 mr1798_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
vg0802053469 NA 2.28E-18 mr1870_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
vg0802053469 NA 5.05E-61 mr1970_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
vg0802053469 NA 1.27E-96 mr1973_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