Variant report

Variant	rs28523954
Chromosome Location	chr18:7980689-7980690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2099932	0.83[AMR][1000 genomes]
rs28367342	0.83[AMR][1000 genomes]
rs28379285	0.83[AMR][1000 genomes]
rs28569201	0.83[AMR][1000 genomes]
rs28644497	1.00[AMR][1000 genomes]
rs28757770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6506541	1.00[AMR][1000 genomes]
rs7239724	1.00[AMR][1000 genomes]
rs7239846	1.00[AMR][1000 genomes]
rs7241071	1.00[AMR][1000 genomes]
rs9944589	0.85[AMR][1000 genomes]
rs9945054	1.00[AMR][1000 genomes]
rs9948263	0.83[AMR][1000 genomes]
rs9949297	0.83[AMR][1000 genomes]
rs9951398	1.00[AMR][1000 genomes]
rs9952921	0.83[AMR][1000 genomes]
rs9955097	0.83[AMR][1000 genomes]
rs9955973	0.83[AMR][1000 genomes]
rs9958058	0.83[AMR][1000 genomes]
rs9963467	0.83[AMR][1000 genomes]
rs9963748	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965536	1.00[AMR][1000 genomes]
rs9966712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9967327	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv521059	chr18:7962217-7981018	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
2	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
3	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:7959000-7987400	Weak transcription	Ovary	ovary
5	chr18:7959200-7982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
7	chr18:7966000-7980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:7966000-7981600	Weak transcription	Thymus	Thymus
9	chr18:7966000-7982800	Weak transcription	A549	lung
10	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:7966000-7989600	Weak transcription	Lung	lung
12	chr18:7975200-7983400	Weak transcription	Fetal Heart	heart
13	chr18:7976400-7986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:7977600-7982600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:7977800-7985800	Weak transcription	Brain Anterior Caudate	brain
16	chr18:7977800-7986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:7978200-7986200	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:7978200-7986400	Weak transcription	Aorta	Aorta
19	chr18:7978200-7986400	Weak transcription	Right Atrium	heart
20	chr18:7979000-7982400	Weak transcription	Left Ventricle	heart
21	chr18:7979600-7981200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:7979600-7983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:7979800-7981600	Enhancers	Placenta	Placenta
24	chr18:7980000-7983000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:7980200-7985800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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