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Detailed information for vg0205347438:

Variant ID: vg0205347438 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5347438
Reference Allele: CCTCTCTAlternative Allele: CCTCT,CGTCTCTCT,CCT,CCTCTCTCT,C,CCTCTCTCTCTCTCT
Primary Allele: CCTCTCTSecondary Allele: CCTCTCTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACCCTAACCCTGGTCGCGGCGGCGGCGGAGGCCGAGGCGGCGGTGGCGGAGGAGGCGTGCGGGGATTGGAATCGCGAGCTCGGTGCGCGTGGTGGCGTCT[CCTCTCT/CCTCT,CGTCTCTCT,CCT,CCTCTCTCT,C,CCTCTCTCTCTCTCT]
CTCTCTCTCTCTCTCTCTCACTCTCTCTCTTCAGGGGAAGGTGGGGGTGGGGGGAGAGAGAGACACTGATAAAAAAGAAAGCCCCCGATGGCGACGGGGA

Reverse complement sequence

TCCCCGTCGCCATCGGGGGCTTTCTTTTTTATCAGTGTCTCTCTCTCCCCCCACCCCCACCTTCCCCTGAAGAGAGAGAGTGAGAGAGAGAGAGAGAGAG[AGAGAGG/AGAGG,AGAGAGACG,AGG,AGAGAGAGG,G,AGAGAGAGAGAGAGG]
AGACGCCACCACGCGCACCGAGCTCGCGATTCCAATCCCCGCACGCCTCCTCCGCCACCGCCGCCTCGGCCTCCGCCGCCGCCGCGACCAGGGTTAGGGT

Allele Frequencies:

Populations Population SizeFrequency of CCTCTCT(primary allele) Frequency of CCTCTCTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.30% 1.80% 30.58% 16.29% CGTCTCTCT: 1.52%; CCT: 0.32%; C: 0.15%; CCTCT: 0.08%; CCTCTCTCTCTCTCT: 0.02%
All Indica  2759 33.40% 0.10% 41.17% 23.02% CGTCTCTCT: 2.32%
All Japonica  1512 80.40% 5.00% 10.45% 2.45% CCT: 0.99%; C: 0.46%; CCTCT: 0.20%; CGTCTCTCT: 0.07%; CCTCTCTCTCTCTCT: 0.07%
Aus  269 37.50% 1.10% 31.60% 27.51% CGTCTCTCT: 1.86%; CCTCT: 0.37%
Indica I  595 34.60% 0.00% 31.60% 33.78% NA
Indica II  465 22.40% 0.20% 40.86% 35.91% CGTCTCTCT: 0.65%
Indica III  913 34.30% 0.00% 50.27% 11.39% CGTCTCTCT: 4.05%
Indica Intermediate  786 37.90% 0.30% 38.04% 20.74% CGTCTCTCT: 3.05%
Temperate Japonica  767 86.30% 0.80% 10.43% 1.96% CCTCT: 0.26%; CCT: 0.13%; CGTCTCTCT: 0.13%
Tropical Japonica  504 69.60% 12.90% 10.52% 3.57% CCT: 1.98%; C: 0.99%; CCTCTCTCTCTCTCT: 0.20%; CCTCT: 0.20%
Japonica Intermediate  241 83.80% 1.70% 10.37% 1.66% CCT: 1.66%; C: 0.83%
VI/Aromatic  96 47.90% 1.00% 39.58% 10.42% CGTCTCTCT: 1.04%
Intermediate  90 50.00% 2.20% 31.11% 15.56% CGTCTCTCT: 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
vg0205347438 CCTCTCT -> CCT LOC_Os02g10200.1 5_prime_UTR_variant ; 883.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCT LOC_Os02g10200.2 5_prime_UTR_variant ; 883.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCT LOC_Os02g10210.1 upstream_gene_variant ; 1279.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCT LOC_Os02g10220.1 upstream_gene_variant ; 4026.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCT LOC_Os02g10190.1 downstream_gene_variant ; 2923.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> DEL N N silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CGTCTCTCT LOC_Os02g10200.1 5_prime_UTR_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CGTCTCTCT LOC_Os02g10200.2 5_prime_UTR_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CGTCTCTCT LOC_Os02g10210.1 upstream_gene_variant ; 1281.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CGTCTCTCT LOC_Os02g10220.1 upstream_gene_variant ; 4028.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CGTCTCTCT LOC_Os02g10190.1 downstream_gene_variant ; 2921.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> C LOC_Os02g10200.1 5_prime_UTR_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> C LOC_Os02g10200.2 5_prime_UTR_variant ; 881.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> C LOC_Os02g10210.1 upstream_gene_variant ; 1281.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> C LOC_Os02g10220.1 upstream_gene_variant ; 4028.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> C LOC_Os02g10190.1 downstream_gene_variant ; 2921.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCTCTCTCT LOC_Os02g10200.1 5_prime_UTR_variant ; 887.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCTCTCTCT LOC_Os02g10200.2 5_prime_UTR_variant ; 887.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCTCTCTCT LOC_Os02g10210.1 upstream_gene_variant ; 1275.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCTCTCTCT LOC_Os02g10220.1 upstream_gene_variant ; 4022.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCTCTCTCT LOC_Os02g10190.1 downstream_gene_variant ; 2927.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCT LOC_Os02g10200.1 5_prime_UTR_variant ; 887.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCT LOC_Os02g10200.2 5_prime_UTR_variant ; 887.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCT LOC_Os02g10210.1 upstream_gene_variant ; 1275.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCT LOC_Os02g10220.1 upstream_gene_variant ; 4022.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCTCTCT LOC_Os02g10190.1 downstream_gene_variant ; 2927.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCT LOC_Os02g10200.1 5_prime_UTR_variant ; 885.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCT LOC_Os02g10200.2 5_prime_UTR_variant ; 885.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCT LOC_Os02g10210.1 upstream_gene_variant ; 1277.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCT LOC_Os02g10220.1 upstream_gene_variant ; 4024.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 N N N N
vg0205347438 CCTCTCT -> CCTCT LOC_Os02g10190.1 downstream_gene_variant ; 2925.0bp to feature; MODIFIER silent_mutation Average:99.427; most accessible tissue: Minghui63 root, score: 99.702 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)
vg0205347438 CCTCT* C -0.01 -0.04 0.0 -0.05 0.02 0.08
vg0205347438 CCTCT* CCT 0.03 0.03 0.03 0.02 0.06 0.1
vg0205347438 CCTCT* CCTCT -0.08 -0.12 -0.14 -0.06 -0.07 -0.06
vg0205347438 CCTCT* CCTCT* -0.12 -0.19 -0.16 -0.12 -0.13 -0.12
vg0205347438 CCTCT* CGTCT* -0.11 -0.18 -0.15 -0.12 -0.12 -0.12