Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86898686..86901471-chr1:86905251..86907632,2	K562	blood:
2	chr1:86898686..86902993-chr1:86903541..86907633,5	K562	blood:

Variant related genes	Relation type
ENSG00000137975	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10493789	0.86[ASN][1000 genomes]
rs10747328	0.83[ASN][1000 genomes]
rs1158505	0.86[ASN][1000 genomes]
rs12564227	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334143	0.86[ASN][1000 genomes]
rs1334146	0.83[ASN][1000 genomes]
rs1334147	0.86[ASN][1000 genomes]
rs1334148	0.88[ASN][1000 genomes]
rs1334150	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129055	0.81[AMR][1000 genomes]
rs17129078	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1931363	0.88[ASN][1000 genomes]
rs2104963	0.83[ASN][1000 genomes]
rs2151708	0.85[ASN][1000 genomes]
rs2151709	0.86[ASN][1000 genomes]
rs2249296	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250857	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252313	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2791464	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3765975	0.86[ASN][1000 genomes]
rs3765978	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4292929	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61800656	0.81[AMR][1000 genomes]
rs61804060	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs883200	0.85[ASN][1000 genomes]
rs9433030	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9787365	0.81[AMR][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	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86890600-86903000	Weak transcription	Esophagus	oesophagus
2	chr1:86896400-86901800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:86896600-86901800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86896600-86902600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86896600-86914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:86897200-86922600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:86897200-86922800	Strong transcription	HMEC	breast
8	chr1:86897400-86901800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:86897400-86906200	Strong transcription	NHEK	skin
10	chr1:86897400-86916000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:86897800-86901800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:86900200-86900800	Enhancers	Gastric	stomach
13	chr1:86900200-86901200	Weak transcription	Fetal Lung	lung
14	chr1:86900200-86902000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:86900200-86902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:86900600-86901000	Bivalent Enhancer	Stomach Mucosa	stomach

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