Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93256428..93259014-chr1:93269209..93271869,2	K562	blood:
2	chr1:93271712..93273787-chr1:93276299..93278239,2	K562	blood:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6679706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539919	1.00[AFR][1000 genomes];1.00[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93268800-93272200	Enhancers	Placenta	Placenta
2	chr1:93269800-93271800	Enhancers	Hela-S3	cervix
3	chr1:93269800-93271800	Enhancers	K562	blood
4	chr1:93269800-93271800	Enhancers	NHEK	skin
5	chr1:93269800-93272200	Enhancers	Osteobl	bone
6	chr1:93269800-93272400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:93270000-93272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:93270600-93271800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:93270600-93272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:93270800-93273800	Weak transcription	HSMM	muscle
11	chr1:93271000-93273600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:93271000-93273600	Weak transcription	NHLF	lung
13	chr1:93271000-93276000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:93271200-93273000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:93271200-93273400	Weak transcription	HMEC	breast
16	chr1:93271200-93273600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:93271200-93273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:93271200-93273600	Weak transcription	HUVEC	blood vessel
19	chr1:93271600-93271800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:93271600-93271800	Enhancers	NHDF-Ad	bronchial
21	chr1:93271600-93272600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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