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Detailed information for vg1227475712:

Variant ID: vg1227475712 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 27475712
Reference Allele: TAlternative Allele: G,C
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGTCGCCGGACACCTCCGGCGAGGAGCTCCCGGCGTGCCGCAACCTCTGCTCGGCCAACTGCTCCTGCCTCGGCTTCTTCTACAGGAACTCCTCCAAGTC[T/G,C]
TGCTTCCTGCTGAACTACCGGATCGGCTCCCTCTTCCGCGGCGACAGCGACGCCGCCGTCGGCTTCATCAAGACGTTGCCGCCGGCGTCGCGTCGCCAGG

Reverse complement sequence

CCTGGCGACGCGACGCCGGCGGCAACGTCTTGATGAAGCCGACGGCGGCGTCGCTGTCGCCGCGGAAGAGGGAGCCGATCCGGTAGTTCAGCAGGAAGCA[A/C,G]
GACTTGGAGGAGTTCCTGTAGAAGAAGCCGAGGCAGGAGCAGTTGGCCGAGCAGAGGTTGCGGCACGCCGGGAGCTCCTCGCCGGAGGTGTCCGGCGACG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 64.90% 35.10% 0.00% 0.00% NA
All Indica  2759 98.50% 1.50% 0.00% 0.00% NA
All Japonica  1512 0.80% 99.20% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 98.70% 1.30% 0.00% 0.00% NA
Indica III  913 98.10% 1.90% 0.00% 0.00% NA
Indica Intermediate  786 97.70% 2.30% 0.00% 0.00% NA
Temperate Japonica  767 0.40% 99.60% 0.00% 0.00% NA
Tropical Japonica  504 0.80% 99.20% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.90% 0.00% 0.00% NA
VI/Aromatic  96 18.80% 81.20% 0.00% 0.00% NA
Intermediate  90 56.70% 43.30% 0.00% 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
vg1227475712 T -> C LOC_Os12g44320.1 synonymous_variant ; p.Ser415Ser; LOW N Average:90.662; most accessible tissue: Zhenshan97 flag leaf, score: 96.255 N N N N
vg1227475712 T -> C LOC_Os12g44310.1 downstream_gene_variant ; 3676.0bp to feature; MODIFIER N Average:90.662; most accessible tissue: Zhenshan97 flag leaf, score: 96.255 N N N N
vg1227475712 T -> C LOC_Os12g44330.1 downstream_gene_variant ; 4404.0bp to feature; MODIFIER N Average:90.662; most accessible tissue: Zhenshan97 flag leaf, score: 96.255 N N N N
vg1227475712 T -> C LOC_Os12g44310.2 downstream_gene_variant ; 3676.0bp to feature; MODIFIER N Average:90.662; most accessible tissue: Zhenshan97 flag leaf, score: 96.255 N N N N
vg1227475712 T -> G LOC_Os12g44320.1 synonymous_variant ; p.Ser415Ser; LOW synonymous_codon Average:90.662; most accessible tissue: Zhenshan97 flag leaf, score: 96.255 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)
vg1227475712 T C 0.0 0.0 0.0 0.0 0.0 0.0
vg1227475712 T G -0.01 -0.01 -0.02 -0.01 -0.01 -0.01