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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0324808360:

Variant ID: vg0324808360 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 24808360
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 80. )

Flanking Sequence (100 bp) in Reference Genome:


TTCTTACGAACACAACGGTGTAATCGGATCGTAGATCGGATGATTAGTTTAAGAGAAAAATATTTTTGAAGCCGGCGTAGTGTAGAGCATCACATGGCTT[C/T]
CAATTTGGATTCATGTGGATAATGCCACATCCGTGAATCACCTGGCCATGTACGGACGCACCAGCGCTTGTGGGATCGGACGGCCGATGAGCGTGTTGCG

Reverse complement sequence

CGCAACACGCTCATCGGCCGTCCGATCCCACAAGCGCTGGTGCGTCCGTACATGGCCAGGTGATTCACGGATGTGGCATTATCCACATGAATCCAAATTG[G/A]
AAGCCATGTGATGCTCTACACTACGCCGGCTTCAAAAATATTTTTCTCTTAAACTAATCATCCGATCTACGATCCGATTACACCGTTGTGTTCGTAAGAA

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 43.20% 31.10% 6.88% 18.83% NA
All Indica  2759 25.40% 52.00% 7.00% 15.55% NA
All Japonica  1512 70.70% 0.70% 6.55% 22.09% NA
Aus  269 55.00% 1.50% 7.06% 36.43% NA
Indica I  595 48.70% 16.60% 14.45% 20.17% NA
Indica II  465 6.00% 86.50% 3.66% 3.87% NA
Indica III  913 16.80% 61.80% 4.38% 17.09% NA
Indica Intermediate  786 29.40% 47.10% 6.36% 17.18% NA
Temperate Japonica  767 90.00% 0.30% 5.74% 4.04% NA
Tropical Japonica  504 42.30% 0.80% 8.13% 48.81% NA
Japonica Intermediate  241 68.90% 1.70% 5.81% 23.65% NA
VI/Aromatic  96 88.50% 0.00% 3.12% 8.33% NA
Intermediate  90 40.00% 24.40% 12.22% 23.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0324808360 C -> T LOC_Os03g44140.1 upstream_gene_variant ; 1060.0bp to feature; MODIFIER silent_mutation Average:51.398; most accessible tissue: Zhenshan97 flower, score: 82.834 N N N N
vg0324808360 C -> T LOC_Os03g44150.1 downstream_gene_variant ; 1691.0bp to feature; MODIFIER silent_mutation Average:51.398; most accessible tissue: Zhenshan97 flower, score: 82.834 N N N N
vg0324808360 C -> T LOC_Os03g44140-LOC_Os03g44150 intergenic_region ; MODIFIER silent_mutation Average:51.398; most accessible tissue: Zhenshan97 flower, score: 82.834 N N N N
vg0324808360 C -> DEL N N silent_mutation Average:51.398; most accessible tissue: Zhenshan97 flower, score: 82.834 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)
vg0324808360 C T -0.04 -0.05 -0.03 -0.03 -0.03 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0324808360 NA 1.55E-09 Heading_date Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0324808360 NA 2.78E-09 mr1671 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
vg0324808360 NA 1.08E-07 mr1928 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
vg0324808360 NA 9.52E-07 mr1951 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
vg0324808360 NA 2.29E-07 mr1671_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