Search for Variation information by Variation ID:

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

Detailed information for vg0820681231:

Variant ID: vg0820681231 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 20681231
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.84, C: 0.17, others allele: 0.00, population size: 97. )

Flanking Sequence (100 bp) in Reference Genome:


CTAATTCATTTGTAAGAGTGCTCTAGCCAGATCCGCTCTAGTCAGAGCTGAAACTATTTAGTTGCGCTCAAGCTCTAAAAGAGATAGAGTTAGAGAGCCC[T/C]
GTACCAAACAAACTCTTATCACAGCTTAGTACTCCAGTACAGTAGTACCAAGTTGACTCTGCATATTTGTCCGACTTACGCCGTGTTTAGTTCCAAAATA

Reverse complement sequence

TATTTTGGAACTAAACACGGCGTAAGTCGGACAAATATGCAGAGTCAACTTGGTACTACTGTACTGGAGTACTAAGCTGTGATAAGAGTTTGTTTGGTAC[A/G]
GGGCTCTCTAACTCTATCTCTTTTAGAGCTTGAGCGCAACTAAATAGTTTCAGCTCTGACTAGAGCGGATCTGGCTAGAGCACTCTTACAAATGAATTAG

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 49.60% 47.60% 0.74% 2.03% NA
All Indica  2759 21.80% 73.70% 1.05% 3.44% NA
All Japonica  1512 98.90% 0.90% 0.26% 0.00% NA
Aus  269 34.20% 65.40% 0.37% 0.00% NA
Indica I  595 17.80% 78.50% 1.18% 2.52% NA
Indica II  465 17.00% 77.80% 1.08% 4.09% NA
Indica III  913 26.10% 69.80% 0.88% 3.29% NA
Indica Intermediate  786 22.80% 72.10% 1.15% 3.94% NA
Temperate Japonica  767 99.00% 0.80% 0.26% 0.00% NA
Tropical Japonica  504 98.80% 1.00% 0.20% 0.00% NA
Japonica Intermediate  241 98.80% 0.80% 0.41% 0.00% NA
VI/Aromatic  96 96.90% 3.10% 0.00% 0.00% NA
Intermediate  90 68.90% 28.90% 1.11% 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
vg0820681231 T -> C LOC_Os08g33200-LOC_Os08g33210 intergenic_region ; MODIFIER silent_mutation Average:66.234; most accessible tissue: Minghui63 flower, score: 79.158 N N N N
vg0820681231 T -> DEL N N silent_mutation Average:66.234; most accessible tissue: Minghui63 flower, score: 79.158 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)
vg0820681231 T C -0.05 -0.03 -0.03 -0.09 -0.07 -0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0820681231 NA 4.17E-06 mr1918 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
vg0820681231 NA 3.09E-07 mr1095_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
vg0820681231 NA 2.33E-06 mr1098_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
vg0820681231 NA 3.68E-07 mr1099_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
vg0820681231 NA 8.21E-08 mr1129_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
vg0820681231 NA 1.52E-06 mr1146_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
vg0820681231 NA 5.23E-07 mr1150_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
vg0820681231 1.89E-06 4.93E-08 mr1222_2 Ind_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
vg0820681231 NA 8.64E-07 mr1251_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
vg0820681231 NA 7.80E-06 mr1255_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
vg0820681231 NA 7.35E-07 mr1435_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
vg0820681231 NA 7.18E-07 mr1918_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