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Detailed information for vg0727786940:

Variant ID: vg0727786940 (JBrowse)Variation Type: SNP
Chromosome: chr07Position: 27786940
Reference Allele: CAlternative Allele: T
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.88, C: 0.12, others allele: 0.00, population size: 209. )

Flanking Sequence (100 bp) in Reference Genome:


GTGTTCTTCGTTGGTTTATAGGAGGAGGAGGAGTGGTGAGTTGGAGAGGCGACGGCGAGGATGGTGGTGGCGATGGCGTCCGTTGGTTTGGTTGGTTGCT[C/T]
CTTCTCCCTCGGTTTCGGTTTTCTGTTTTTGTGCTTAGCCGTTTCGAGGAGGAGAGGATGAGAGGACTGGCTACAAATGGCAAATTCAGTACAAACAGGG

Reverse complement sequence

CCCTGTTTGTACTGAATTTGCCATTTGTAGCCAGTCCTCTCATCCTCTCCTCCTCGAAACGGCTAAGCACAAAAACAGAAAACCGAAACCGAGGGAGAAG[G/A]
AGCAACCAACCAAACCAACGGACGCCATCGCCACCACCATCCTCGCCGTCGCCTCTCCAACTCACCACTCCTCCTCCTCCTATAAACCAACGAAGAACAC

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 55.80% 44.10% 0.17% 0.00% NA
All Indica  2759 88.50% 11.20% 0.29% 0.00% NA
All Japonica  1512 4.70% 95.30% 0.00% 0.00% NA
Aus  269 1.50% 98.50% 0.00% 0.00% NA
Indica I  595 94.30% 5.40% 0.34% 0.00% NA
Indica II  465 90.10% 9.50% 0.43% 0.00% NA
Indica III  913 89.70% 10.10% 0.22% 0.00% NA
Indica Intermediate  786 81.90% 17.80% 0.25% 0.00% NA
Temperate Japonica  767 1.20% 98.80% 0.00% 0.00% NA
Tropical Japonica  504 10.90% 89.10% 0.00% 0.00% NA
Japonica Intermediate  241 2.90% 97.10% 0.00% 0.00% NA
VI/Aromatic  96 77.10% 22.90% 0.00% 0.00% NA
Intermediate  90 48.90% 51.10% 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
vg0727786940 C -> T LOC_Os07g46520.1 upstream_gene_variant ; 20.0bp to feature; MODIFIER silent_mutation Average:92.266; most accessible tissue: Zhenshan97 flower, score: 97.807 N N N N
vg0727786940 C -> T LOC_Os07g46530.1 upstream_gene_variant ; 3723.0bp to feature; MODIFIER silent_mutation Average:92.266; most accessible tissue: Zhenshan97 flower, score: 97.807 N N N N
vg0727786940 C -> T LOC_Os07g46510.1 downstream_gene_variant ; 4948.0bp to feature; MODIFIER silent_mutation Average:92.266; most accessible tissue: Zhenshan97 flower, score: 97.807 N N N N
vg0727786940 C -> T LOC_Os07g46540.1 downstream_gene_variant ; 4166.0bp to feature; MODIFIER silent_mutation Average:92.266; most accessible tissue: Zhenshan97 flower, score: 97.807 N N N N
vg0727786940 C -> T LOC_Os07g46520-LOC_Os07g46530 intergenic_region ; MODIFIER silent_mutation Average:92.266; most accessible tissue: Zhenshan97 flower, score: 97.807 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)
vg0727786940 C T 0.04 0.03 0.05 0.0 0.03 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0727786940 4.63E-06 4.62E-06 mr1068 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
vg0727786940 NA 3.98E-35 mr1094 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
vg0727786940 NA 1.78E-35 mr1110 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
vg0727786940 NA 2.21E-30 mr1208 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
vg0727786940 NA 2.25E-11 mr1233 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
vg0727786940 NA 2.55E-17 mr1255 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
vg0727786940 NA 1.33E-09 mr1260 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
vg0727786940 NA 2.22E-09 mr1299 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
vg0727786940 NA 2.81E-06 mr1068_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
vg0727786940 NA 1.55E-37 mr1110_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
vg0727786940 NA 1.17E-06 mr1211_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
vg0727786940 NA 1.20E-20 mr1218_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
vg0727786940 NA 7.63E-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
vg0727786940 NA 4.03E-07 mr1870_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