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Detailed information for vg0601448111:

Variant ID: vg0601448111 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 1448111
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTCCCACACGCTGGAATCAGACGAGATTCTCCGCTGAAATCTCTCACCGACTCCCCCCCCCCCCCCCCCCACCTCAGTGCATCATCCTTGCTTCTTCGGC[C/A]
ACTGAATCTGGGCACGAACACAAACCGAGCAGAGAAAATCCAAAGCTTTTTAGCGCTCTCGAAACCCCAAAATCGCGGGCTTTTCCATACAAATCCCCAC

Reverse complement sequence

GTGGGGATTTGTATGGAAAAGCCCGCGATTTTGGGGTTTCGAGAGCGCTAAAAAGCTTTGGATTTTCTCTGCTCGGTTTGTGTTCGTGCCCAGATTCAGT[G/T]
GCCGAAGAAGCAAGGATGATGCACTGAGGTGGGGGGGGGGGGGGGGGGAGTCGGTGAGAGATTTCAGCGGAGAATCTCGTCTGATTCCAGCGTGTGGGAC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.50% 10.50% 0.06% 0.00% NA
All Indica  2759 86.50% 13.40% 0.07% 0.00% NA
All Japonica  1512 94.10% 5.90% 0.00% 0.00% NA
Aus  269 92.60% 7.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 75.10% 24.90% 0.00% 0.00% NA
Indica III  913 84.10% 15.80% 0.11% 0.00% NA
Indica Intermediate  786 85.90% 14.00% 0.13% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 82.90% 17.10% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 81.10% 17.80% 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
vg0601448111 C -> A LOC_Os06g03682.1 5_prime_UTR_premature_start_codon_gain_variant ; LOW silent_mutation Average:90.698; most accessible tissue: Zhenshan97 panicle, score: 95.705 N N N N
vg0601448111 C -> A LOC_Os06g03682.1 5_prime_UTR_variant ; 110.0bp to feature; MODIFIER silent_mutation Average:90.698; most accessible tissue: Zhenshan97 panicle, score: 95.705 N N N N
vg0601448111 C -> A LOC_Os06g03676.1 upstream_gene_variant ; 2948.0bp to feature; MODIFIER silent_mutation Average:90.698; most accessible tissue: Zhenshan97 panicle, score: 95.705 N N N N
vg0601448111 C -> A LOC_Os06g03682.2 intron_variant ; MODIFIER silent_mutation Average:90.698; most accessible tissue: Zhenshan97 panicle, score: 95.705 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)
vg0601448111 C A 0.0 0.0 -0.01 -0.01 -0.02 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0601448111 NA 2.63E-06 mr1122 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
vg0601448111 9.74E-06 3.25E-08 mr1310 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
vg0601448111 NA 9.38E-07 mr1354 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
vg0601448111 2.90E-06 2.90E-06 mr1442 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
vg0601448111 NA 1.18E-08 mr1498 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
vg0601448111 NA 7.54E-06 mr1570 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
vg0601448111 NA 1.95E-06 mr1583 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
vg0601448111 NA 6.27E-13 mr1769 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
vg0601448111 NA 7.67E-09 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
vg0601448111 NA 7.70E-08 mr1310_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
vg0601448111 NA 6.98E-06 mr1322_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
vg0601448111 NA 1.90E-06 mr1558_2 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
vg0601448111 NA 4.80E-11 mr1769_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