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Detailed information for vg1223000245:

Variant ID: vg1223000245 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23000245
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.88, A: 0.12, others allele: 0.00, population size: 89. )

Flanking Sequence (100 bp) in Reference Genome:


ATAATTAAGGTGCCAAAGTCTAGGTTTTCTTTCTATCGCTATATATATATATGTACGTAGTAGTATACTATATATAGGATCATATCGATCGGTCGCCGGC[C/A]
GGCGGCGTGCGTCTAGCTGCTGGAGCGGAGGCCGGCGGCGACGGCGATGGCGATGCAGTTGCTGGCGAGCTTGGCGAGCTCGGCGTCCTGCTTGGACATG

Reverse complement sequence

CATGTCCAAGCAGGACGCCGAGCTCGCCAAGCTCGCCAGCAACTGCATCGCCATCGCCGTCGCCGCCGGCCTCCGCTCCAGCAGCTAGACGCACGCCGCC[G/T]
GCCGGCGACCGATCGATATGATCCTATATATAGTATACTACTACGTACATATATATATATAGCGATAGAAAGAAAACCTAGACTTTGGCACCTTAATTAT

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 65.40% 16.50% 8.80% 9.25% NA
All Indica  2759 63.90% 27.70% 4.57% 3.84% NA
All Japonica  1512 65.00% 0.40% 15.67% 18.92% NA
Aus  269 84.80% 1.10% 8.92% 5.20% NA
Indica I  595 54.10% 13.40% 17.31% 15.13% NA
Indica II  465 89.90% 7.70% 1.08% 1.29% NA
Indica III  913 48.40% 51.20% 0.22% 0.22% NA
Indica Intermediate  786 73.90% 23.00% 2.04% 1.02% NA
Temperate Japonica  767 50.10% 0.00% 19.95% 29.99% NA
Tropical Japonica  504 84.30% 1.00% 9.92% 4.76% NA
Japonica Intermediate  241 72.20% 0.40% 14.11% 13.28% NA
VI/Aromatic  96 56.20% 1.00% 17.71% 25.00% NA
Intermediate  90 71.10% 7.80% 13.33% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223000245 C -> DEL N N silent_mutation Average:77.28; most accessible tissue: Minghui63 panicle, score: 90.184 N N N N
vg1223000245 C -> A LOC_Os12g37480.1 3_prime_UTR_variant ; 13.0bp to feature; MODIFIER silent_mutation Average:77.28; most accessible tissue: Minghui63 panicle, score: 90.184 N N N N
vg1223000245 C -> A LOC_Os12g37470.1 upstream_gene_variant ; 1721.0bp to feature; MODIFIER silent_mutation Average:77.28; most accessible tissue: Minghui63 panicle, score: 90.184 N N N N
vg1223000245 C -> A LOC_Os12g37490.1 downstream_gene_variant ; 1966.0bp to feature; MODIFIER silent_mutation Average:77.28; most accessible tissue: Minghui63 panicle, score: 90.184 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)
vg1223000245 C A 0.08 0.04 0.02 -0.01 0.05 0.05