Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185488164..185489829-chr1:185492979..185495284,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMCN1-4	chr1:185487783-185490118	NONHSAT008424

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10159387	1.00[EUR][1000 genomes]
rs11803475	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061799	1.00[EUR][1000 genomes]
rs16824368	1.00[EUR][1000 genomes]
rs3955251	0.90[AMR][1000 genomes]
rs55668166	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55749359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56982777	1.00[EUR][1000 genomes]
rs57855737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58168300	1.00[EUR][1000 genomes]
rs58963489	1.00[EUR][1000 genomes]
rs59444721	1.00[EUR][1000 genomes]
rs60026340	0.91[AMR][1000 genomes]
rs60416788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61588056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673367	1.00[EUR][1000 genomes]
rs73052265	1.00[EUR][1000 genomes]
rs73052267	1.00[EUR][1000 genomes]
rs73052272	1.00[EUR][1000 genomes]
rs7550745	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185487000-185490200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185488600-185490400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:185488600-185490600	Enhancers	HMEC	breast
4	chr1:185488800-185489800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:185489000-185490600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:185489000-185490600	Enhancers	NHEK	skin
7	chr1:185489200-185490000	Enhancers	Osteobl	bone
8	chr1:185489200-185490600	Enhancers	HUVEC	blood vessel
9	chr1:185489200-185490600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:185489400-185490000	Enhancers	NH-A	brain
11	chr1:185489400-185490200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:185489400-185490200	Enhancers	NHDF-Ad	bronchial
13	chr1:185489400-185490600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:185489400-185490600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:185489600-185490600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:185489600-185490600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:185489600-185490600	Enhancers	Hela-S3	cervix

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