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Detailed information for vg0424844193:

Variant ID: vg0424844193 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 24844193
Reference Allele: CCTAlternative Allele: CCTCTCT,CCTCT,CCTCTCTCT,C
Primary Allele: CCTSecondary Allele: CCTCTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTACGTGACGGCTAAGTCAGCGTGGGACCCACGTAGCCCACATGTCTTTCCCCTCCTTTTCACTCCACGTCATCATCTCTTTTCCCTCCTTTCACTTCCT[CCT/CCTCTCT,CCTCT,CCTCTCTCT,C]
CTCTCTCTCTCTCTCAATTTTCTCCTCTCACAGGCTGACCGGTGGGTCGGGACGAGGTCGACGGGGCAAGCAGGGAGAGGGGAAGGTGCGGCGGCTGGCG

Reverse complement sequence

CGCCAGCCGCCGCACCTTCCCCTCTCCCTGCTTGCCCCGTCGACCTCGTCCCGACCCACCGGTCAGCCTGTGAGAGGAGAAAATTGAGAGAGAGAGAGAG[AGG/AGAGAGG,AGAGG,AGAGAGAGG,G]
AGGAAGTGAAAGGAGGGAAAAGAGATGATGACGTGGAGTGAAAAGGAGGGGAAAGACATGTGGGCTACGTGGGTCCCACGCTGACTTAGCCGTCACGTAG

Allele Frequencies:

Populations Population SizeFrequency of CCT(primary allele) Frequency of CCTCTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 91.80% 6.40% 0.57% 0.00% CCTCT: 1.06%; CCTCTCTCT: 0.11%; C: 0.04%
All Indica  2759 91.60% 7.00% 0.25% 0.00% CCTCT: 1.16%; CCTCTCTCT: 0.04%
All Japonica  1512 98.00% 0.10% 0.73% 0.00% CCTCT: 1.06%; C: 0.13%
Aus  269 56.50% 38.70% 2.60% 0.00% CCTCTCTCT: 1.49%; CCTCT: 0.74%
Indica I  595 99.50% 0.00% 0.17% 0.00% CCTCT: 0.34%
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 81.10% 16.60% 0.44% 0.00% CCTCT: 1.75%; CCTCTCTCT: 0.11%
Indica Intermediate  786 93.40% 4.60% 0.25% 0.00% CCTCT: 1.78%
Temperate Japonica  767 99.60% 0.00% 0.26% 0.00% CCTCT: 0.13%
Tropical Japonica  504 97.40% 0.20% 0.40% 0.00% CCTCT: 1.79%; C: 0.20%
Japonica Intermediate  241 94.20% 0.00% 2.90% 0.00% CCTCT: 2.49%; C: 0.41%
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 93.30% 4.40% 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
vg0424844193 CCT -> C LOC_Os04g41930.1 5_prime_UTR_variant ; 209.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> C LOC_Os04g41920.1 upstream_gene_variant ; 483.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> C LOC_Os04g41910.1 downstream_gene_variant ; 4410.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> C LOC_Os04g41950.1 downstream_gene_variant ; 2709.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCT LOC_Os04g41930.1 5_prime_UTR_variant ; 208.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCT LOC_Os04g41920.1 upstream_gene_variant ; 485.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCT LOC_Os04g41910.1 downstream_gene_variant ; 4412.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCT LOC_Os04g41950.1 downstream_gene_variant ; 2707.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCT LOC_Os04g41930.1 5_prime_UTR_variant ; 208.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCT LOC_Os04g41920.1 upstream_gene_variant ; 485.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCT LOC_Os04g41910.1 downstream_gene_variant ; 4412.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCT LOC_Os04g41950.1 downstream_gene_variant ; 2707.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCTCT LOC_Os04g41930.1 5_prime_UTR_variant ; 208.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCTCT LOC_Os04g41920.1 upstream_gene_variant ; 485.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCTCT LOC_Os04g41910.1 downstream_gene_variant ; 4412.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 N N N N
vg0424844193 CCT -> CCTCTCTCT LOC_Os04g41950.1 downstream_gene_variant ; 2707.0bp to feature; MODIFIER silent_mutation Average:99.024; most accessible tissue: Zhenshan97 young leaf, score: 99.8 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)
vg0424844193 CCT C -0.15 -0.15 -0.11 -0.14 -0.11 -0.13
vg0424844193 CCT CCTCT -0.13 -0.15 -0.11 -0.12 -0.09 -0.14
vg0424844193 CCT CCTCT* -0.01 0.01 0.01 -0.04 -0.02 -0.02