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Detailed information for vg0605916372:

Variant ID: vg0605916372 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 5916372
Reference Allele: TAlternative Allele: G
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TAATTACAGAAATAGGCATCTGCTTTAGCACCAACCTCAATGACACTGAGCTATAGCCTGGGACGAACCCAAGGGGTGCCGGGTATGCACTACCCAAAAA[T/G]
TTTGAAAAAAAAACACTAGGGTGTGGCGTGGAATCATGGCAAGGATGGTAGCGAGAAAGCATTAAAATAGAATCCCCTCGATGAATAGAGCACAATGGTG

Reverse complement sequence

CACCATTGTGCTCTATTCATCGAGGGGATTCTATTTTAATGCTTTCTCGCTACCATCCTTGCCATGATTCCACGCCACACCCTAGTGTTTTTTTTTCAAA[A/C]
TTTTTGGGTAGTGCATACCCGGCACCCCTTGGGTTCGTCCCAGGCTATAGCTCAGTGTCATTGAGGTTGGTGCTAAAGCAGATGCCTATTTCTGTAATTA

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 68.40% 0.30% 19.91% 11.43% NA
All Indica  2759 68.30% 0.40% 20.66% 10.69% NA
All Japonica  1512 77.50% 0.00% 12.30% 10.19% NA
Aus  269 11.90% 1.10% 60.22% 26.77% NA
Indica I  595 91.40% 0.00% 7.73% 0.84% NA
Indica II  465 48.00% 0.60% 32.69% 18.71% NA
Indica III  913 63.10% 0.50% 22.56% 13.80% NA
Indica Intermediate  786 68.80% 0.30% 21.12% 9.80% NA
Temperate Japonica  767 99.20% 0.00% 0.26% 0.52% NA
Tropical Japonica  504 45.80% 0.00% 29.37% 24.80% NA
Japonica Intermediate  241 74.70% 0.00% 14.94% 10.37% NA
VI/Aromatic  96 91.70% 0.00% 3.12% 5.21% NA
Intermediate  90 61.10% 1.10% 22.22% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0605916372 T -> G LOC_Os06g11280.1 upstream_gene_variant ; 2004.0bp to feature; MODIFIER silent_mutation Average:83.447; most accessible tissue: Minghui63 root, score: 93.365 N N N N
vg0605916372 T -> G LOC_Os06g11290.1 downstream_gene_variant ; 1734.0bp to feature; MODIFIER silent_mutation Average:83.447; most accessible tissue: Minghui63 root, score: 93.365 N N N N
vg0605916372 T -> G LOC_Os06g11280-LOC_Os06g11290 intergenic_region ; MODIFIER silent_mutation Average:83.447; most accessible tissue: Minghui63 root, score: 93.365 N N N N
vg0605916372 T -> DEL N N silent_mutation Average:83.447; most accessible tissue: Minghui63 root, score: 93.365 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)
vg0605916372 T G -0.03 -0.04 -0.02 0.0 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0605916372 NA 5.89E-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
vg0605916372 NA 4.49E-06 mr1363_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
vg0605916372 NA 7.83E-06 mr1819_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
vg0605916372 4.75E-06 6.46E-08 mr1851_2 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
vg0605916372 NA 1.11E-10 mr1864_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
vg0605916372 NA 1.96E-08 mr1952_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