Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr22:30834616-30834929	K562	blood:	n/a	n/a
2	MAZ	chr22:30834572-30834913	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230137	TF binding region

rSNPs within LD-proxies of this variant (count:17)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
2	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
5	chr22:30832200-30835800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
7	chr22:30832600-30835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30832600-30835600	Weak transcription	NHEK	skin
9	chr22:30832600-30835800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:30832600-30835800	Weak transcription	Esophagus	oesophagus
11	chr22:30832600-30835800	Weak transcription	HMEC	breast
12	chr22:30832600-30837800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr22:30832800-30835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:30832800-30835800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:30834000-30835200	Enhancers	Duodenum Mucosa	Duodenum
16	chr22:30834200-30835000	Enhancers	Colonic Mucosa	Colon
17	chr22:30834200-30835200	Enhancers	K562	blood
18	chr22:30834400-30835000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr22:30834400-30835200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr22:30834800-30835800	Weak transcription	Stomach Mucosa	stomach

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