Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116894301-116914960	GM12878	blood:
2	7:116754962-116765597..7:116894301-116914960	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction

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

rs_ID	r²[population]
rs10226248	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11981089	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12706145	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13224335	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2215552	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2402177	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34911130	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3735646	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs38902	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs38909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38916	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4727845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730773	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730775	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887573	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887575	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9691008	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9692365	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116909600-116920400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:116910400-116913000	Enhancers	NHDF-Ad	bronchial
3	chr7:116910800-116915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:116911000-116913200	Weak transcription	HMEC	breast
5	chr7:116911000-116913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:116911200-116913200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:116911200-116913200	Weak transcription	NHEK	skin
8	chr7:116911200-116913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:116911200-116915000	Weak transcription	NHLF	lung
10	chr7:116912000-116915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:116912200-116915200	Weak transcription	Osteobl	bone
12	chr7:116912400-116914800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:116912800-116913000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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