Variant report

Variant	rs28644497
Chromosome Location	chr18:8002416-8002417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2099932	0.83[AMR][1000 genomes]
rs28367342	0.83[AMR][1000 genomes]
rs28379285	0.83[AMR][1000 genomes]
rs28523954	1.00[AMR][1000 genomes]
rs28569201	0.83[AMR][1000 genomes]
rs28757770	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]
rs8095629	0.91[AFR][1000 genomes]
rs9944589	0.85[AMR][1000 genomes]
rs9945054	0.93[AFR][1000 genomes];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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965536	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9966712	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	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:7988200-8003600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:7999600-8004200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:8000000-8004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:8000200-8003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:8000200-8004200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:8001000-8007600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:8001400-8002600	Weak transcription	Aorta	Aorta
9	chr18:8001400-8004000	Weak transcription	Left Ventricle	heart
10	chr18:8001400-8004200	Weak transcription	Right Ventricle	heart
11	chr18:8001400-8005600	Weak transcription	Psoas Muscle	Psoas
12	chr18:8001400-8006600	Weak transcription	Lung	lung
13	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:8001600-8003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:8001600-8004000	Weak transcription	Right Atrium	heart
17	chr18:8001800-8002800	Strong transcription	A549	lung
18	chr18:8002000-8006000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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