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Detailed information for vg0100745539:

Variant ID: vg0100745539 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 745539
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, others allele: 0.00, population size: 68. )

Flanking Sequence (100 bp) in Reference Genome:


GCAAGCAGTGATCATACAGCCTTCCTGCTCTCTCTATTCTGTTTGCAATCCTCTTCACCCTAATTTTCAATGTACCTCTGGCCGTTGCAGTACACACACA[C/G]
ACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGATGGGTACCATTCTCGCAACAGCCTTCCTGCTCTCTGTTCTCAGCCATGGCAGCTACA

Reverse complement sequence

TGTAGCTGCCATGGCTGAGAACAGAGAGCAGGAAGGCTGTTGCGAGAATGGTACCCATCTCTCTCTCTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGT[G/C]
TGTGTGTGTACTGCAACGGCCAGAGGTACATTGAAAATTAGGGTGAAGAGGATTGCAAACAGAATAGAGAGAGCAGGAAGGCTGTATGATCACTGCTTGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 41.90% 18.40% 4.59% 35.12% NA
All Indica  2759 26.40% 16.70% 6.96% 49.87% NA
All Japonica  1512 72.10% 24.60% 0.73% 2.58% NA
Aus  269 19.70% 4.10% 2.60% 73.61% NA
Indica I  595 13.80% 51.40% 3.53% 31.26% NA
Indica II  465 48.80% 4.10% 13.33% 33.76% NA
Indica III  913 16.20% 4.20% 5.59% 74.04% NA
Indica Intermediate  786 34.60% 12.60% 7.38% 45.42% NA
Temperate Japonica  767 93.50% 1.40% 0.39% 4.69% NA
Tropical Japonica  504 30.80% 67.50% 1.39% 0.40% NA
Japonica Intermediate  241 90.50% 8.70% 0.41% 0.41% NA
VI/Aromatic  96 60.40% 5.20% 3.12% 31.25% NA
Intermediate  90 55.60% 21.10% 4.44% 18.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0100745539 C -> G LOC_Os01g02360.1 5_prime_UTR_variant ; 43.0bp to feature; MODIFIER silent_mutation Average:82.57; most accessible tissue: Zhenshan97 root, score: 91.301 N N N N
vg0100745539 C -> G LOC_Os01g02334.1 upstream_gene_variant ; 3745.0bp to feature; MODIFIER silent_mutation Average:82.57; most accessible tissue: Zhenshan97 root, score: 91.301 N N N N
vg0100745539 C -> G LOC_Os01g02350.1 upstream_gene_variant ; 383.0bp to feature; MODIFIER silent_mutation Average:82.57; most accessible tissue: Zhenshan97 root, score: 91.301 N N N N
vg0100745539 C -> DEL N N silent_mutation Average:82.57; most accessible tissue: Zhenshan97 root, score: 91.301 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)
vg0100745539 C G -0.02 -0.02 -0.01 -0.01 -0.02 -0.03