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Detailed information for vg0219342066:

Variant ID: vg0219342066 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 19342066
Reference Allele: CAlternative Allele: CTCTTCT,CTCTTCTTCTTCTTCTTCTTCT,CTCT,CTCTTCTTCTTCTTCTTCTTCTTCT,CTCTTCGTCTTCTTCTTCTTCTTCT,CTCTTCGTCTTCTTCTTCTTCT
Primary Allele: CSecondary Allele: CTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTGCAATGGACAGATAAATATTCCCCCCTCAAGCTCTTTGTCTTCTCCTGCTCCTCCCGATCCCAATCCGCCATTGGTGGGCGCCAAGCTCAGCTCGTTG[C/CTCTTCT,CTCTTCTTCTTCTTCTTCTTCT,CTCT,CTCTTCTTCTTCTTCTTCTTCTTCT,CTCTTCGTCTTCTTCTTCTTCTTCT,CTCTTCGTCTTCTTCTTCTTCT]
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCACTCGCTGCCCACTCATTGGGAAAAATCCGAGCTCGGATTGAGGTTTGTTGGTAAGACGGACAGC

Reverse complement sequence

GCTGTCCGTCTTACCAACAAACCTCAATCCGAGCTCGGATTTTTCCCAATGAGTGGGCAGCGAGTGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA[G/AGAAGAG,AGAAGAAGAAGAAGAAGAAGAG,AGAG,AGAAGAAGAAGAAGAAGAAGAAGAG,AGAAGAAGAAGAAGAAGACGAAGAG,AGAAGAAGAAGAAGACGAAGAG]
CAACGAGCTGAGCTTGGCGCCCACCAATGGCGGATTGGGATCGGGAGGAGCAGGAGAAGACAAAGAGCTTGAGGGGGGAATATTTATCTGTCCATTGCAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 58.90% 10.40% 11.47% 0.38% CTCTTCTTCTTCTTCTTCTTCT: 5.95%; CTCTTCT: 5.82%; CTCTTCGTCTTCTTCTTCTTCTTCT: 2.75%; CTCTTCTTCTTCTTCTTCTTCTTCT: 2.41%; CTCTTCGTCTTCTTCTTCTTCT: 1.99%
All Indica  2759 56.70% 4.40% 15.51% 0.33% CTCTTCTTCTTCTTCTTCTTCT: 9.82%; CTCTTCGTCTTCTTCTTCTTCTTCT: 4.46%; CTCTTCTTCTTCTTCTTCTTCTTCT: 4.13%; CTCTTCGTCTTCTTCTTCTTCT: 3.30%; CTCTTCT: 1.30%
All Japonica  1512 62.60% 18.70% 5.22% 0.00% CTCTTCT: 12.96%; CTCTTCGTCTTCTTCTTCTTCTTCT: 0.26%; CTCTTCGTCTTCTTCTTCTTCT: 0.13%; CTCTTCTTCTTCTTCTTCTTCT: 0.07%
Aus  269 54.30% 27.90% 10.04% 3.35% CTCTTCT: 2.23%; CTCTTCTTCTTCTTCTTCTTCT: 1.86%; CTCTTCGTCTTCTTCTTCTTCTTCT: 0.37%
Indica I  595 55.80% 11.60% 23.87% 0.50% CTCTTCTTCTTCTTCTTCTTCTTCT: 3.03%; CTCTTCGTCTTCTTCTTCTTCTTCT: 2.35%; CTCTTCGTCTTCTTCTTCTTCT: 1.51%; CTCTTCT: 1.01%; CTCTTCTTCTTCTTCTTCTTCT: 0.34%
Indica II  465 65.60% 1.90% 17.20% 0.22% CTCTTCTTCTTCTTCTTCTTCT: 5.16%; CTCTTCGTCTTCTTCTTCTTCT: 4.52%; CTCTTCGTCTTCTTCTTCTTCTTCT: 2.80%; CTCTTCTTCTTCTTCTTCTTCTTCT: 2.37%; CTCTTCT: 0.22%
Indica III  913 52.00% 0.70% 8.54% 0.22% CTCTTCTTCTTCTTCTTCTTCT: 22.12%; CTCTTCGTCTTCTTCTTCTTCTTCT: 7.34%; CTCTTCGTCTTCTTCTTCTTCT: 4.16%; CTCTTCTTCTTCTTCTTCTTCTTCT: 3.07%; CTCTTCT: 1.86%
Indica Intermediate  786 57.60% 4.80% 16.28% 0.38% CTCTTCTTCTTCTTCTTCTTCTTCT: 7.25%; CTCTTCTTCTTCTTCTTCTTCT: 5.47%; CTCTTCGTCTTCTTCTTCTTCTTCT: 3.69%; CTCTTCGTCTTCTTCTTCTTCT: 2.93%; CTCTTCT: 1.53%
Temperate Japonica  767 71.30% 19.30% 5.22% 0.00% CTCTTCT: 3.78%; CTCTTCGTCTTCTTCTTCTTCTTCT: 0.26%; CTCTTCGTCTTCTTCTTCTTCT: 0.13%
Tropical Japonica  504 61.50% 10.70% 3.77% 0.00% CTCTTCT: 23.61%; CTCTTCGTCTTCTTCTTCTTCTTCT: 0.20%; CTCTTCTTCTTCTTCTTCTTCT: 0.20%
Japonica Intermediate  241 37.30% 33.60% 8.30% 0.00% CTCTTCT: 19.92%; CTCTTCGTCTTCTTCTTCTTCTTCT: 0.41%; CTCTTCGTCTTCTTCTTCTTCT: 0.41%
VI/Aromatic  96 61.50% 3.10% 2.08% 0.00% CTCTTCT: 33.33%
Intermediate  90 72.20% 7.80% 6.67% 0.00% CTCTTCT: 5.56%; CTCTTCTTCTTCTTCTTCTTCT: 4.44%; CTCTTCGTCTTCTTCTTCTTCTTCT: 2.22%; CTCTTCGTCTTCTTCTTCTTCT: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0219342066 C -> CTCTTCTTCTTCTTCTTCTTCTTCT LOC_Os02g32620.1 5_prime_UTR_variant ; 69.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCTTCTTCTTCTTCTTCTTCT LOC_Os02g32630.1 upstream_gene_variant ; 3670.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> DEL N N silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCTTCTTCTTCTTCTTCT LOC_Os02g32620.1 5_prime_UTR_variant ; 69.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCTTCTTCTTCTTCTTCT LOC_Os02g32630.1 upstream_gene_variant ; 3670.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCGTCTTCTTCTTCTTCTTCT LOC_Os02g32620.1 5_prime_UTR_variant ; 96.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCGTCTTCTTCTTCTTCTTCT LOC_Os02g32630.1 upstream_gene_variant ; 3670.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCGTCTTCTTCTTCTTCT LOC_Os02g32620.1 5_prime_UTR_variant ; 96.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCGTCTTCTTCTTCTTCT LOC_Os02g32630.1 upstream_gene_variant ; 3670.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCT LOC_Os02g32620.1 5_prime_UTR_variant ; 69.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCT LOC_Os02g32630.1 upstream_gene_variant ; 3670.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCT LOC_Os02g32620.1 5_prime_UTR_variant ; 69.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 N N N N
vg0219342066 C -> CTCTTCT LOC_Os02g32630.1 upstream_gene_variant ; 3670.0bp to feature; MODIFIER silent_mutation Average:92.37; most accessible tissue: Minghui63 root, score: 98.094 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)
vg0219342066 C CTCT -0.04 -0.03 -0.03 -0.11 -0.07 -0.07
vg0219342066 C CTCTT* -0.34 -0.32 -0.22 -0.31 -0.22 -0.13