Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94424709..94427125-chr1:94437508..94439049,2	MCF-7	breast:
2	chr1:94373743..94375409-chr1:94425249..94427408,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000023909	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1159834	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11804053	1.00[EUR][1000 genomes]
rs11804187	1.00[EUR][1000 genomes]
rs11807845	1.00[EUR][1000 genomes]
rs12407172	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17110878	1.00[EUR][1000 genomes]
rs17110898	1.00[EUR][1000 genomes]
rs17878956	1.00[EUR][1000 genomes]
rs17881957	1.00[EUR][1000 genomes]
rs17884580	1.00[EUR][1000 genomes]
rs17884925	1.00[EUR][1000 genomes]
rs17885147	1.00[EUR][1000 genomes]
rs34212520	1.00[EUR][1000 genomes]
rs56260099	1.00[EUR][1000 genomes]
rs60759501	1.00[EUR][1000 genomes]
rs6677399	1.00[EUR][1000 genomes]
rs6698242	1.00[EUR][1000 genomes]
rs714096	0.86[AMR][1000 genomes]
rs74102018	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74102090	1.00[EUR][1000 genomes]
rs7530845	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7535837	1.00[EUR][1000 genomes]
rs7550770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:94422600-94426200	Weak transcription	Esophagus	oesophagus
2	chr1:94422600-94445000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:94423000-94427200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:94423600-94430800	Weak transcription	Pancreas	Pancrea
5	chr1:94423600-94433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:94423600-94434800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:94423800-94426200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94423800-94429400	Weak transcription	Aorta	Aorta
9	chr1:94424800-94427600	Enhancers	HepG2	liver
10	chr1:94425600-94427600	Enhancers	NHEK	skin
11	chr1:94425600-94427800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:94425600-94428400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:94425600-94429800	Enhancers	Liver	Liver
14	chr1:94425600-94435600	Enhancers	HMEC	breast
15	chr1:94425800-94431200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:94426000-94426600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:94426000-94427200	Enhancers	Fetal Intestine Large	intestine
18	chr1:94426000-94427400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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