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Detailed information for vg0624913214:

Variant ID: vg0624913214 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 24913214
Reference Allele: GAlternative Allele: C
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.53, G: 0.47, others allele: 0.00, population size: 77. )

Flanking Sequence (100 bp) in Reference Genome:


AGGGGCAACATCCATGAGCATGTGCACCACCTCGCGTATTGTTGGCCTCATAGATGGGTCCACCTGTATGCACCATATACGCCACACGTGCGTACCTCTC[G/C]
GCGCTATCAGCCATGCTCGAGCCTAACACCATGGGTGCCCCGGCCCTCTCTCTTCTTCCCCCACGAGTTGAGACTTCAGACATTCTCCCGTCCTCGATAA

Reverse complement sequence

TTATCGAGGACGGGAGAATGTCTGAAGTCTCAACTCGTGGGGGAAGAAGAGAGAGGGCCGGGGCACCCATGGTGTTAGGCTCGAGCATGGCTGATAGCGC[C/G]
GAGAGGTACGCACGTGTGGCGTATATGGTGCATACAGGTGGACCCATCTATGAGGCCAACAATACGCGAGGTGGTGCACATGCTCATGGATGTTGCCCCT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 36.20% 19.40% 0.32% 44.01% NA
All Indica  2759 4.90% 24.60% 0.47% 70.03% NA
All Japonica  1512 94.20% 0.10% 0.07% 5.56% NA
Aus  269 9.30% 77.70% 0.37% 12.64% NA
Indica I  595 0.70% 66.60% 0.17% 32.61% NA
Indica II  465 6.90% 4.10% 0.22% 88.82% NA
Indica III  913 2.70% 11.60% 0.55% 85.10% NA
Indica Intermediate  786 9.50% 20.00% 0.76% 69.72% NA
Temperate Japonica  767 97.50% 0.10% 0.13% 2.22% NA
Tropical Japonica  504 86.70% 0.00% 0.00% 13.29% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 82.30% 16.70% 0.00% 1.04% NA
Intermediate  90 53.30% 14.40% 0.00% 32.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0624913214 G -> C LOC_Os06g41570.1 synonymous_variant ; p.Ala122Ala; LOW synonymous_codon Average:47.33; most accessible tissue: Callus, score: 95.269 N N N N
vg0624913214 G -> DEL LOC_Os06g41570.1 N frameshift_variant Average:47.33; most accessible tissue: Callus, score: 95.269 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)
vg0624913214 G C 0.02 0.0 -0.01 0.01 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0624913214 NA 4.52E-07 mr1028 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
vg0624913214 NA 1.03E-06 mr1245 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
vg0624913214 NA 1.60E-11 mr1275 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
vg0624913214 NA 4.45E-11 mr1307 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
vg0624913214 NA 8.01E-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
vg0624913214 NA 2.64E-06 mr1445 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
vg0624913214 NA 1.11E-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
vg0624913214 NA 3.67E-06 mr1496 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
vg0624913214 NA 2.01E-06 mr1850 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
vg0624913214 NA 2.39E-07 mr1482_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