Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:22195542-22196549	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
2	chr12:22189100..22191552-chr12:22195163..22197054,2	K562	blood:

Variant related genes	Relation type
CMAS	TF binding region

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22188400-22198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
4	chr12:22194400-22196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:22194400-22196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:22195000-22196000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:22195000-22196000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:22195000-22196400	Enhancers	HMEC	breast
9	chr12:22195000-22196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:22195000-22196600	Enhancers	Osteobl	bone
11	chr12:22195000-22198600	Enhancers	K562	blood
12	chr12:22195000-22198800	Enhancers	HepG2	liver
13	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
14	chr12:22195200-22196200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:22195200-22196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:22195200-22196400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:22195200-22197200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:22195400-22195800	Enhancers	A549	lung
19	chr12:22195400-22196200	Weak transcription	NHLF	lung
20	chr12:22195600-22196000	Enhancers	Colonic Mucosa	Colon
21	chr12:22195600-22196400	Enhancers	NH-A	brain
22	chr12:22195600-22197200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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