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Detailed information for vg0141604652:

Variant ID: vg0141604652 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 41604652
Reference Allele: TAlternative Allele: A
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CATGCTTAAATAATTAATGTTGGTTGAATGTTAATGTACTCTGTATGGCACATTGTGCTTTGAAAATGCTACATGAATAAAAGTTCCAAATTTATTTCTT[T/A]
ACAAAAAAATACTCAGGATATCTTAATCTGTTGATGACTGCAGCCTGCTGTGACTATATATTGGTACTATCTTGTGCCAAACAAATGGCACATAAACGTA

Reverse complement sequence

TACGTTTATGTGCCATTTGTTTGGCACAAGATAGTACCAATATATAGTCACAGCAGGCTGCAGTCATCAACAGATTAAGATATCCTGAGTATTTTTTTGT[A/T]
AAGAAATAAATTTGGAACTTTTATTCATGTAGCATTTTCAAAGCACAATGTGCCATACAGAGTACATTAACATTCAACCAACATTAATTATTTAAGCATG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 47.90% 9.60% 31.32% 11.17% NA
All Indica  2759 25.30% 14.50% 41.43% 18.74% NA
All Japonica  1512 97.70% 0.70% 1.39% 0.20% NA
Aus  269 11.90% 9.70% 77.32% 1.12% NA
Indica I  595 31.40% 6.20% 53.95% 8.40% NA
Indica II  465 20.90% 13.80% 32.69% 32.69% NA
Indica III  913 13.90% 22.10% 44.69% 19.28% NA
Indica Intermediate  786 36.50% 12.50% 33.33% 17.68% NA
Temperate Japonica  767 99.20% 0.00% 0.65% 0.13% NA
Tropical Japonica  504 97.00% 1.80% 0.79% 0.40% NA
Japonica Intermediate  241 94.20% 0.80% 4.98% 0.00% NA
VI/Aromatic  96 7.30% 10.40% 82.29% 0.00% NA
Intermediate  90 56.70% 5.60% 32.22% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0141604652 T -> A LOC_Os01g71830.1 3_prime_UTR_variant ; 148.0bp to feature; MODIFIER silent_mutation Average:42.881; most accessible tissue: Zhenshan97 root, score: 92.627 N N N N
vg0141604652 T -> A LOC_Os01g71840.1 upstream_gene_variant ; 1039.0bp to feature; MODIFIER silent_mutation Average:42.881; most accessible tissue: Zhenshan97 root, score: 92.627 N N N N
vg0141604652 T -> DEL N N silent_mutation Average:42.881; most accessible tissue: Zhenshan97 root, score: 92.627 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)
vg0141604652 T A 0.06 -0.01 -0.01 -0.01 -0.01 -0.02