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Detailed information for vg0222934117:

Variant ID: vg0222934117 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 22934117
Reference Allele: CTTAlternative Allele: CT,CTTT,C
Primary Allele: CTTSecondary Allele: CT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGCAGAGTGAATTGCTACTTGGGCCGCAATGTAGAATTGCTACTTGGGCCGTCCTACCAAGTAGGCAAGCACACTGCTCGGGAGGTCGGGATTTTCTTTT[CTT/CT,CTTT,C]
TTTTTTTTTTCCGTCGCTTCTTCGCGCCGCCTCCCCTCGACGCCGGCGCCGCCGCTCTCGTGAGCCACCGCCACCGCCGGCGCCGCCGCTCTCGTGAGCC

Reverse complement sequence

GGCTCACGAGAGCGGCGGCGCCGGCGGTGGCGGTGGCTCACGAGAGCGGCGGCGCCGGCGTCGAGGGGAGGCGGCGCGAAGAAGCGACGGAAAAAAAAAA[AAG/AG,AAAG,G]
AAAAGAAAATCCCGACCTCCCGAGCAGTGTGCTTGCCTACTTGGTAGGACGGCCCAAGTAGCAATTCTACATTGCGGCCCAAGTAGCAATTCACTCTGCG

Allele Frequencies:

Populations Population SizeFrequency of CTT(primary allele) Frequency of CT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 91.00% 2.90% 4.51% 0.74% C: 0.78%; CTTT: 0.02%
All Indica  2759 96.00% 1.40% 1.16% 0.18% C: 1.23%; CTTT: 0.04%
All Japonica  1512 88.20% 2.00% 7.87% 1.92% C: 0.07%
Aus  269 53.90% 23.80% 21.19% 0.37% C: 0.74%
Indica I  595 99.00% 0.00% 1.01% 0.00% NA
Indica II  465 98.50% 1.10% 0.43% 0.00% NA
Indica III  913 93.10% 2.30% 1.10% 0.11% C: 3.29%; CTTT: 0.11%
Indica Intermediate  786 95.50% 1.70% 1.78% 0.51% C: 0.51%
Temperate Japonica  767 90.00% 1.40% 7.95% 0.65% NA
Tropical Japonica  504 91.10% 2.00% 5.36% 1.59% NA
Japonica Intermediate  241 76.30% 3.70% 12.86% 6.64% C: 0.41%
VI/Aromatic  96 96.90% 1.00% 2.08% 0.00% NA
Intermediate  90 93.30% 3.30% 3.33% 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
vg0222934117 CTT -> CTTT LOC_Os02g37950.1 5_prime_UTR_variant ; 1427.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CTTT LOC_Os02g37950.2 5_prime_UTR_variant ; 1427.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CTTT LOC_Os02g37950.3 5_prime_UTR_variant ; 1427.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CTTT LOC_Os02g37940.1 upstream_gene_variant ; 626.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CTTT LOC_Os02g37940.2 upstream_gene_variant ; 575.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CTTT LOC_Os02g37950.3 upstream_gene_variant ; 10.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CTTT LOC_Os02g37930.1 downstream_gene_variant ; 3642.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> DEL N N silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CT LOC_Os02g37950.1 5_prime_UTR_variant ; 1428.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CT LOC_Os02g37950.2 5_prime_UTR_variant ; 1428.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CT LOC_Os02g37940.1 upstream_gene_variant ; 625.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CT LOC_Os02g37940.2 upstream_gene_variant ; 574.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CT LOC_Os02g37950.3 upstream_gene_variant ; 11.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> CT LOC_Os02g37930.1 downstream_gene_variant ; 3641.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> C LOC_Os02g37950.1 5_prime_UTR_variant ; 1428.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> C LOC_Os02g37950.2 5_prime_UTR_variant ; 1428.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> C LOC_Os02g37940.1 upstream_gene_variant ; 624.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> C LOC_Os02g37940.2 upstream_gene_variant ; 573.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> C LOC_Os02g37950.3 upstream_gene_variant ; 12.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 N N N N
vg0222934117 CTT -> C LOC_Os02g37930.1 downstream_gene_variant ; 3640.0bp to feature; MODIFIER silent_mutation Average:98.631; most accessible tissue: Zhenshan97 flower, score: 99.501 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)
vg0222934117 CTT C -0.04 -0.01 0.04 -0.01 0.03 0.04
vg0222934117 CTT CT 0.0 0.02 0.05 0.01 0.02 0.02
vg0222934117 CTT CTTT 0.01 0.03 0.06 0.02 0.04 0.03