Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160283415..160285026-chr3:160392303..160394437,2	MCF-7	breast:
2	chr3:160392640..160394500-chr3:160414229..160416051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207084	Chromatin interaction

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2204817	0.92[ASN][1000 genomes]
rs4679910	0.80[ASN][1000 genomes]
rs6763757	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6763892	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6788429	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6788886	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6801636	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877703	chr3:160325458-160398885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160385200-160395000	Weak transcription	Colonic Mucosa	Colon
2	chr3:160389400-160395200	Weak transcription	Pancreas	Pancrea
3	chr3:160389400-160395400	Weak transcription	Small Intestine	intestine
4	chr3:160391400-160395200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:160392000-160394600	Enhancers	A549	lung
6	chr3:160392000-160395200	Weak transcription	HepG2	liver
7	chr3:160393200-160394800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:160393400-160394600	Enhancers	Hela-S3	cervix
9	chr3:160393400-160394800	Enhancers	Duodenum Mucosa	Duodenum
10	chr3:160393400-160395000	Enhancers	Fetal Intestine Small	intestine
11	chr3:160393400-160395000	Enhancers	NHEK	skin
12	chr3:160393400-160395200	Enhancers	Fetal Intestine Large	intestine
13	chr3:160393400-160395800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:160393400-160395800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:160393400-160397000	Enhancers	HMEC	breast
16	chr3:160393400-160397200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:160393400-160397400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:160393600-160394600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr3:160393600-160395000	Enhancers	NH-A	brain
20	chr3:160393600-160395200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:160393800-160394200	Enhancers	Stomach Mucosa	stomach
22	chr3:160394000-160395200	Weak transcription	Placenta Amnion	Placenta Amnion

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