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Detailed information for vg1100141349:

Variant ID: vg1100141349 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 141349
Reference Allele: AAlternative Allele: AGCCCTCGCTACGCCTTCGACGACTCC,AGCCCTCGCT,AGCCCTCGCTACGCCTTCG,AGCCCTCGCTACGCCTTCGACGACTCCAGT,AGCCCTCGCTACGCCTTCGACG,AGCCCTCGCTACGCCTTCGACGACTCCAGTAAGCCC
Primary Allele: ASecondary Allele: AGCCCTCGCTACGCCTTCG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGATATTGGGGAGGAGGAGGAGGCGTTGGTGTTTGAAGATGAGGAGAAGACCGAGCTGATTAGGGTGCAAGACTTCCGTCGCGTCTGGGAACATCGCTTT[A/AGCCCTCGCTACGCCTTCGACGACTCC,AGCCCTCGCT,AGCCCTCGCTACGCCTTCG,AGCCCTCGCTACGCCTTCGACGACTCCAGT,AGCCCTCGCTACGCCTTCGACG,AGCCCTCGCTACGCCTTCGACGACTCCAGTAAGCCC]
ACAGCTAAGGGCATCCACAATGCTATTATTTGGTAATAAGTAATGCTACTACTTAACTGCAGCAACTGTATGTCCCATGCGTTATACGGAGGGACCTATC

Reverse complement sequence

GATAGGTCCCTCCGTATAACGCATGGGACATACAGTTGCTGCAGTTAAGTAGTAGCATTACTTATTACCAAATAATAGCATTGTGGATGCCCTTAGCTGT[T/GGAGTCGTCGAAGGCGTAGCGAGGGCT,AGCGAGGGCT,CGAAGGCGTAGCGAGGGCT,ACTGGAGTCGTCGAAGGCGTAGCGAGGGCT,CGTCGAAGGCGTAGCGAGGGCT,GGGCTTACTGGAGTCGTCGAAGGCGTAGCGAGGGCT]
AAAGCGATGTTCCCAGACGCGACGGAAGTCTTGCACCCTAATCAGCTCGGTCTTCTCCTCATCTTCAAACACCAACGCCTCCTCCTCCTCCCCAATATCC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of AGCCCTCGCTACGCCTTCG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 99.60% 0.10% 0.00% 0.00% AGCCCTCGCT: 0.08%; AGCCCTCGCTACGCCTTCGACG: 0.06%; AGCCCTCGCTACGCCTTCGACGACTCCAGTAAGCCC: 0.06%; AGCCCTCGCTACGCCTTCGACGACTCCAGT: 0.04%; AGCCCTCGCTACGCCTTCGACGACTCC: 0.02%
All Indica  2759 99.30% 0.20% 0.00% 0.00% AGCCCTCGCT: 0.14%; AGCCCTCGCTACGCCTTCGACG: 0.11%; AGCCCTCGCTACGCCTTCGACGACTCCAGTAAGCCC: 0.11%; AGCCCTCGCTACGCCTTCGACGACTCCAGT: 0.07%; AGCCCTCGCTACGCCTTCGACGACTCC: 0.04%
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.30% 0.00% 0.00% 0.00% AGCCCTCGCTACGCCTTCGACGACTCCAGTAAGCCC: 0.34%; AGCCCTCGCTACGCCTTCGACG: 0.17%; AGCCCTCGCT: 0.17%
Indica II  465 99.10% 0.40% 0.00% 0.00% AGCCCTCGCTACGCCTTCGACGACTCCAGT: 0.22%; AGCCCTCGCTACGCCTTCGACGACTCCAGTAAGCCC: 0.22%
Indica III  913 99.80% 0.00% 0.00% 0.00% AGCCCTCGCTACGCCTTCGACGACTCC: 0.11%; AGCCCTCGCT: 0.11%
Indica Intermediate  786 99.00% 0.40% 0.00% 0.00% AGCCCTCGCTACGCCTTCGACG: 0.25%; AGCCCTCGCT: 0.25%; AGCCCTCGCTACGCCTTCGACGACTCCAGT: 0.13%
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 98.90% 1.10% 0.00% 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
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCC LOC_Os11g01250.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCC LOC_Os11g01240.1 downstream_gene_variant ; 2391.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCC LOC_Os11g01270.1 downstream_gene_variant ; 2815.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCC LOC_Os11g01260.1 intron_variant ; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCG LOC_Os11g01250.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCG LOC_Os11g01240.1 downstream_gene_variant ; 2391.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCG LOC_Os11g01270.1 downstream_gene_variant ; 2815.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCG LOC_Os11g01260.1 intron_variant ; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT AAGCCC LOC_Os11g01250.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT AAGCCC LOC_Os11g01240.1 downstream_gene_variant ; 2391.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT AAGCCC LOC_Os11g01270.1 downstream_gene_variant ; 2815.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT AAGCCC LOC_Os11g01260.1 intron_variant ; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCT LOC_Os11g01250.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCT LOC_Os11g01240.1 downstream_gene_variant ; 2391.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCT LOC_Os11g01270.1 downstream_gene_variant ; 2815.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCT LOC_Os11g01260.1 intron_variant ; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACG LOC_Os11g01250.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACG LOC_Os11g01240.1 downstream_gene_variant ; 2391.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACG LOC_Os11g01270.1 downstream_gene_variant ; 2815.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACG LOC_Os11g01260.1 intron_variant ; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT LOC_Os11g01250.1 upstream_gene_variant ; 1032.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT LOC_Os11g01240.1 downstream_gene_variant ; 2391.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT LOC_Os11g01270.1 downstream_gene_variant ; 2815.0bp to feature; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 N N N N
vg1100141349 A -> AGCCCTCGCTACGCCTTCGACGACTCCAGT LOC_Os11g01260.1 intron_variant ; MODIFIER N Average:69.635; most accessible tissue: Zhenshan97 flower, score: 87.671 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)
vg1100141349 A AGCCC* 0.62 0.45 0.39 0.58 0.56 0.62