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Detailed information for vg0205347439:

Variant ID: vg0205347439 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5347439
Reference Allele: CAlternative Allele: G
Primary Allele: GSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCCTAACCCTGGTCGCGGCGGCGGCGGAGGCCGAGGCGGCGGTGGCGGAGGAGGCGTGCGGGGATTGGAATCGCGAGCTCGGTGCGCGTGGTGGCGTCTC[C/G]
TCTCTCTCTCTCTCTCTCTCTCTCACTCTCTCTCTTCAGGGGAAGGTGGGGGTGGGGGGAGAGAGAGACACTGATAAAAAAGAAAGCCCCCGATGGCGAC

Reverse complement sequence

GTCGCCATCGGGGGCTTTCTTTTTTATCAGTGTCTCTCTCTCCCCCCACCCCCACCTTCCCCTGAAGAGAGAGAGTGAGAGAGAGAGAGAGAGAGAGAGA[G/C]
GAGACGCCACCACGCGCACCGAGCTCGCGATTCCAATCCCCGCACGCCTCCTCCGCCACCGCCGCCTCGGCCTCCGCCGCCGCCGCGACCAGGGTTAGGG

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 65.30% 34.40% 0.30% 0.02% NA
All Indica  2759 96.10% 3.80% 0.04% 0.04% NA
All Japonica  1512 2.10% 97.30% 0.66% 0.00% NA
Aus  269 97.40% 2.20% 0.37% 0.00% NA
Indica I  595 96.60% 3.40% 0.00% 0.00% NA
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 95.60% 4.40% 0.00% 0.00% NA
Indica Intermediate  786 94.50% 5.20% 0.13% 0.13% NA
Temperate Japonica  767 2.00% 97.40% 0.65% 0.00% NA
Tropical Japonica  504 0.80% 98.80% 0.40% 0.00% NA
Japonica Intermediate  241 5.00% 93.80% 1.24% 0.00% NA
VI/Aromatic  96 90.60% 9.40% 0.00% 0.00% NA
Intermediate  90 58.90% 38.90% 2.22% 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
vg0205347439 C -> G LOC_Os02g10200.1 5_prime_UTR_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:99.462; most accessible tissue: Minghui63 root, score: 99.731 N N N N
vg0205347439 C -> G LOC_Os02g10200.2 5_prime_UTR_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:99.462; most accessible tissue: Minghui63 root, score: 99.731 N N N N
vg0205347439 C -> G LOC_Os02g10210.1 upstream_gene_variant ; 1281.0bp to feature; MODIFIER silent_mutation Average:99.462; most accessible tissue: Minghui63 root, score: 99.731 N N N N
vg0205347439 C -> G LOC_Os02g10220.1 upstream_gene_variant ; 4028.0bp to feature; MODIFIER silent_mutation Average:99.462; most accessible tissue: Minghui63 root, score: 99.731 N N N N
vg0205347439 C -> G LOC_Os02g10190.1 downstream_gene_variant ; 2921.0bp to feature; MODIFIER silent_mutation Average:99.462; most accessible tissue: Minghui63 root, score: 99.731 N N N N
vg0205347439 C -> DEL N N silent_mutation Average:99.462; most accessible tissue: Minghui63 root, score: 99.731 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)
vg0205347439 C G 0.0 0.0 0.01 -0.01 0.01 0.0