Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:130364552-130366587	K562	blood:	n/a	n/a

Variant related genes	Relation type
CCDC26	TF binding region

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

rs_ID	r²[population]
rs10505543	1.00[EUR][1000 genomes]
rs16904091	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16904096	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16904100	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16904107	1.00[EUR][1000 genomes]
rs16904111	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs57429183	1.00[EUR][1000 genomes]
rs57780119	1.00[EUR][1000 genomes]
rs58076733	1.00[EUR][1000 genomes]
rs58257572	1.00[EUR][1000 genomes]
rs58808349	1.00[EUR][1000 genomes]
rs59080393	1.00[EUR][1000 genomes]
rs59118615	1.00[EUR][1000 genomes]
rs59470088	1.00[EUR][1000 genomes]
rs60985401	1.00[EUR][1000 genomes]
rs61349896	1.00[EUR][1000 genomes]
rs6986342	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7833978	1.00[EUR][1000 genomes]
rs7843635	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9693399	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:130355000-130368400	Strong transcription	K562	blood
2	chr8:130361600-130368400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:130361600-130370800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130361800-130371000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:130364400-130365800	Genic enhancers	Dnd41	blood
6	chr8:130364600-130365800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:130364600-130365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:130364800-130365800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:130364800-130365800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:130364800-130365800	Enhancers	HMEC	breast
11	chr8:130364800-130365800	Enhancers	HSMM	muscle
12	chr8:130364800-130366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:130365000-130365800	Enhancers	Fetal Thymus	thymus
14	chr8:130365200-130374800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:130365400-130365800	Enhancers	Adipose Nuclei	Adipose
16	chr8:130365400-130365800	Enhancers	NHEK	skin

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