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Detailed information for vg1206301973:

Variant ID: vg1206301973 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 6301973
Reference Allele: TAlternative Allele: A
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGGGCATGAATATTGGCCTGGATTGCAGGTCGGATACGGAGTCGGAAGCAGTCCACTTTGAAGCAACACCCTCGCGGCGGAGGCCATCACCGGCGCCTCC[T/A]
GCAGCGCCGCCGCCATGACGAACAGCATCAGGACGAGCAGCGCCGCCAGCCGCCGCCGGCCACCGGTGGCCCTGAGCGCCGCCGCCATCGCCGATCCTCC

Reverse complement sequence

GGAGGATCGGCGATGGCGGCGGCGCTCAGGGCCACCGGTGGCCGGCGGCGGCTGGCGGCGCTGCTCGTCCTGATGCTGTTCGTCATGGCGGCGGCGCTGC[A/T]
GGAGGCGCCGGTGATGGCCTCCGCCGCGAGGGTGTTGCTTCAAAGTGGACTGCTTCCGACTCCGTATCCGACCTGCAATCCAGGCCAATATTCATGCCCA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 29.10% 12.80% 3.53% 54.57% NA
All Indica  2759 37.90% 1.40% 3.41% 57.27% NA
All Japonica  1512 9.90% 35.10% 0.73% 54.23% NA
Aus  269 23.00% 9.30% 21.19% 46.47% NA
Indica I  595 85.50% 1.50% 0.34% 12.61% NA
Indica II  465 20.60% 1.90% 2.15% 75.27% NA
Indica III  913 14.80% 0.70% 4.27% 80.28% NA
Indica Intermediate  786 38.90% 1.90% 5.47% 53.69% NA
Temperate Japonica  767 15.90% 38.30% 0.91% 44.85% NA
Tropical Japonica  504 2.60% 23.40% 0.60% 73.41% NA
Japonica Intermediate  241 6.20% 49.40% 0.41% 43.98% NA
VI/Aromatic  96 87.50% 0.00% 2.08% 10.42% NA
Intermediate  90 34.40% 13.30% 3.33% 48.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1206301973 T -> DEL LOC_Os12g11620.1 N frameshift_variant Average:76.145; most accessible tissue: Zhenshan97 flag leaf, score: 85.259 N N N N
vg1206301973 T -> A LOC_Os12g11620.1 missense_variant ; p.Gln30Leu; MODERATE nonsynonymous_codon ; Q30L Average:76.145; most accessible tissue: Zhenshan97 flag leaf, score: 85.259 unknown unknown TOLERATED 0.69

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)
vg1206301973 T A -0.01 -0.01 -0.01 0.0 0.0 0.0