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Detailed information for vg0103098327:

Variant ID: vg0103098327 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 3098327
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGCACCCCCGTGATGTTCGTCGTCTTCGTCGACGCCGGCGCGGGCGCCGCTGGCGTCGCCGGTGCCGCCGGTGTCGCCGGCGCCGGCGCGGCCGGCGCCG[C/A]
CGTCGGGCCCTGAGCCGACGCCGCGATGGCCATGGACACAACAAGACACAGCACAAGTCTCTGCATGGCTTGCATGGTGGATGCTGTCACAGTGTCAAAA

Reverse complement sequence

TTTTGACACTGTGACAGCATCCACCATGCAAGCCATGCAGAGACTTGTGCTGTGTCTTGTTGTGTCCATGGCCATCGCGGCGTCGGCTCAGGGCCCGACG[G/T]
CGGCGCCGGCCGCGCCGGCGCCGGCGACACCGGCGGCACCGGCGACGCCAGCGGCGCCCGCGCCGGCGTCGACGAAGACGACGAACATCACGGGGGTGCT

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 83.50% 14.10% 1.84% 0.61% NA
All Indica  2759 97.20% 2.60% 0.14% 0.04% NA
All Japonica  1512 61.10% 31.70% 5.29% 1.85% NA
Aus  269 90.00% 10.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 97.40% 2.20% 0.22% 0.22% NA
Indica III  913 94.00% 5.80% 0.22% 0.00% NA
Indica Intermediate  786 98.70% 1.10% 0.13% 0.00% NA
Temperate Japonica  767 40.00% 47.60% 9.26% 3.13% NA
Tropical Japonica  504 95.80% 3.80% 0.20% 0.20% NA
Japonica Intermediate  241 55.60% 39.80% 3.32% 1.24% NA
VI/Aromatic  96 21.90% 77.10% 1.04% 0.00% NA
Intermediate  90 84.40% 13.30% 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
vg0103098327 C -> A LOC_Os01g06580.1 missense_variant ; p.Ala26Ser; MODERATE nonsynonymous_codon ; A26S Average:93.019; most accessible tissue: Zhenshan97 flag leaf, score: 98.39 unknown unknown TOLERATED 0.26
vg0103098327 C -> DEL LOC_Os01g06580.1 N frameshift_variant Average:93.019; most accessible tissue: Zhenshan97 flag leaf, score: 98.39 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)
vg0103098327 C A -0.02 -0.01 -0.01 -0.04 -0.03 -0.03