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Detailed information for vg0218948347:

Variant ID: vg0218948347 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 18948347
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, T: 0.02, others allele: 0.00, population size: 123. )

Flanking Sequence (100 bp) in Reference Genome:


TAAGCCATACACGGAGTATGTAATTAACCCCTCGGACACGCCCCCGCGTTCCACAGCGATCGCCGACGTCGATCGAGATCATGGGCGCGTTGCTATATCA[T/C]
GTTCGATGGAAAAAAAAACAGAAACAAAACCTCGCAAATTTCAAACCTTAATTTATATCCACTTAACGATTCGTGCTTAATTTAGGATGTCTTCGGAACC

Reverse complement sequence

GGTTCCGAAGACATCCTAAATTAAGCACGAATCGTTAAGTGGATATAAATTAAGGTTTGAAATTTGCGAGGTTTTGTTTCTGTTTTTTTTTCCATCGAAC[A/G]
TGATATAGCAACGCGCCCATGATCTCGATCGACGTCGGCGATCGCTGTGGAACGCGGGGGCGTGTCCGAGGGGTTAATTACATACTCCGTGTATGGCTTA

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 75.30% 24.10% 0.61% 0.00% NA
All Indica  2759 88.40% 11.50% 0.04% 0.00% NA
All Japonica  1512 62.60% 35.60% 1.79% 0.00% NA
Aus  269 34.20% 65.80% 0.00% 0.00% NA
Indica I  595 70.40% 29.40% 0.17% 0.00% NA
Indica II  465 95.50% 4.50% 0.00% 0.00% NA
Indica III  913 96.90% 3.10% 0.00% 0.00% NA
Indica Intermediate  786 88.00% 12.00% 0.00% 0.00% NA
Temperate Japonica  767 41.70% 54.90% 3.39% 0.00% NA
Tropical Japonica  504 96.60% 3.40% 0.00% 0.00% NA
Japonica Intermediate  241 57.70% 41.90% 0.41% 0.00% NA
VI/Aromatic  96 14.60% 85.40% 0.00% 0.00% NA
Intermediate  90 73.30% 25.60% 1.11% 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
vg0218948347 T -> C LOC_Os02g32060-LOC_Os02g32070 intergenic_region ; MODIFIER silent_mutation Average:85.181; most accessible tissue: Minghui63 root, score: 98.781 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)
vg0218948347 T C 0.07 0.03 0.04 0.01 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0218948347 NA 7.97E-07 mr1192 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
vg0218948347 NA 9.80E-06 mr1201 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
vg0218948347 NA 8.51E-07 mr1274 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
vg0218948347 NA 1.54E-09 mr1585 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
vg0218948347 NA 9.15E-07 mr1126_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
vg0218948347 NA 1.21E-10 mr1585_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
vg0218948347 NA 3.50E-07 mr1608_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
vg0218948347 NA 2.42E-09 mr1780_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
vg0218948347 NA 1.09E-13 mr1914_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
vg0218948347 NA 4.92E-06 mr1914_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