Search for Variation information by Variation ID:

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

Detailed information for vg0507563644:

Variant ID: vg0507563644 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 7563644
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, T: 0.01, others allele: 0.00, population size: 119. )

Flanking Sequence (100 bp) in Reference Genome:


GATTAAGTTTGGTTAATTAGGGTTTATTAATTGGTGGACGCGTAATAAATTACCAGGTTCTGTTTGTTATCAATAATCTCTGATGTGAAAAGAAATATAG[C/T]
CTAGTGGTTGCAGTGACTTAAGTAGCACCTTAAGATCCTGAGTTCTAATCTCCATATGAGGACTAAGTTCCCTATTTGACAAGTTAAGTTCCTAATTTAA

Reverse complement sequence

TTAAATTAGGAACTTAACTTGTCAAATAGGGAACTTAGTCCTCATATGGAGATTAGAACTCAGGATCTTAAGGTGCTACTTAAGTCACTGCAACCACTAG[G/A]
CTATATTTCTTTTCACATCAGAGATTATTGATAACAAACAGAACCTGGTAATTTATTACGCGTCCACCAATTAATAAACCCTAATTAACCAAACTTAATC

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 94.20% 5.60% 0.21% 0.00% NA
All Indica  2759 96.30% 3.30% 0.36% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 39.00% 61.00% 0.00% 0.00% NA
Indica I  595 99.30% 0.50% 0.17% 0.00% NA
Indica II  465 93.80% 6.20% 0.00% 0.00% NA
Indica III  913 97.40% 2.50% 0.11% 0.00% NA
Indica Intermediate  786 94.30% 4.70% 1.02% 0.00% 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% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 92.20% 7.80% 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
vg0507563644 C -> T LOC_Os05g13640.1 upstream_gene_variant ; 3515.0bp to feature; MODIFIER silent_mutation Average:56.977; most accessible tissue: Zhenshan97 panicle, score: 94.949 N N N N
vg0507563644 C -> T LOC_Os05g13660.1 upstream_gene_variant ; 2737.0bp to feature; MODIFIER silent_mutation Average:56.977; most accessible tissue: Zhenshan97 panicle, score: 94.949 N N N N
vg0507563644 C -> T LOC_Os05g13630.1 downstream_gene_variant ; 4438.0bp to feature; MODIFIER silent_mutation Average:56.977; most accessible tissue: Zhenshan97 panicle, score: 94.949 N N N N
vg0507563644 C -> T LOC_Os05g13650.1 downstream_gene_variant ; 248.0bp to feature; MODIFIER silent_mutation Average:56.977; most accessible tissue: Zhenshan97 panicle, score: 94.949 N N N N
vg0507563644 C -> T LOC_Os05g13650-LOC_Os05g13660 intergenic_region ; MODIFIER silent_mutation Average:56.977; most accessible tissue: Zhenshan97 panicle, score: 94.949 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)
vg0507563644 C T 0.07 0.0 -0.01 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0507563644 NA 4.92E-16 mr1158 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
vg0507563644 NA 8.78E-06 mr1184 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
vg0507563644 NA 2.41E-07 mr1207 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
vg0507563644 NA 7.39E-06 mr1230 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
vg0507563644 NA 2.29E-07 mr1278 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
vg0507563644 NA 6.37E-07 mr1320 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
vg0507563644 NA 4.60E-08 mr1348 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
vg0507563644 NA 3.79E-06 mr1349 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
vg0507563644 NA 5.13E-06 mr1353 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
vg0507563644 NA 8.08E-07 mr1365 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
vg0507563644 NA 1.74E-07 mr1369 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
vg0507563644 1.48E-06 1.48E-06 mr1396 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
vg0507563644 NA 1.39E-06 mr1438 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
vg0507563644 NA 1.39E-07 mr1453 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
vg0507563644 2.52E-06 2.52E-06 mr1481 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