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Detailed information for vg0825096466:

Variant ID: vg0825096466 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 25096466
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTGATTCCTCATCCGAGTCAACAAACAGGGTGAAACTCCCACCAATCAGGACGATGCCATATTGAGGATGCAAAATACTTCATTCGTCTCAATATAAGTA[T/C]
AATTTAAAATAGATATAACATATTATAGGACTATGAATATATGAACAAATATCTGTTTAAATTCGTAGTCCTAAAATATCTTAGTAAATCTGTACTAGGT

Reverse complement sequence

ACCTAGTACAGATTTACTAAGATATTTTAGGACTACGAATTTAAACAGATATTTGTTCATATATTCATAGTCCTATAATATGTTATATCTATTTTAAATT[A/G]
TACTTATATTGAGACGAATGAAGTATTTTGCATCCTCAATATGGCATCGTCCTGATTGGTGGGAGTTTCACCCTGTTTGTTGACTCGGATGAGGAATCAG

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 80.40% 14.50% 5.14% 0.00% NA
All Indica  2759 94.60% 1.40% 3.91% 0.00% NA
All Japonica  1512 50.30% 41.50% 8.20% 0.00% NA
Aus  269 98.50% 0.70% 0.74% 0.00% NA
Indica I  595 85.50% 3.90% 10.59% 0.00% NA
Indica II  465 95.30% 0.90% 3.87% 0.00% NA
Indica III  913 99.70% 0.00% 0.33% 0.00% NA
Indica Intermediate  786 95.30% 1.70% 3.05% 0.00% NA
Temperate Japonica  767 32.10% 56.50% 11.47% 0.00% NA
Tropical Japonica  504 69.40% 27.60% 2.98% 0.00% NA
Japonica Intermediate  241 68.50% 22.80% 8.71% 0.00% NA
VI/Aromatic  96 97.90% 0.00% 2.08% 0.00% NA
Intermediate  90 75.60% 16.70% 7.78% 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
vg0825096466 T -> C LOC_Os08g39630.1 downstream_gene_variant ; 3517.0bp to feature; MODIFIER silent_mutation Average:83.787; most accessible tissue: Callus, score: 95.554 N N N N
vg0825096466 T -> C LOC_Os08g39630-LOC_Os08g39640 intergenic_region ; MODIFIER silent_mutation Average:83.787; most accessible tissue: Callus, score: 95.554 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)
vg0825096466 T C -0.03 -0.03 -0.02 -0.02 -0.02 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0825096466 3.35E-06 9.82E-13 mr1712 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
vg0825096466 NA 5.28E-06 mr1712 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
vg0825096466 NA 5.68E-07 mr1763 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