Variant report

Variant	rs147289543
Chromosome Location	chr12:22196466-22196467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:22195797-22196592	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
2	CEBPB	chr12:22195922-22196559	A549	lung:	n/a	chr12:22196164-22196175
3	CEBPB	chr12:22195896-22196485	IMR90	lung:	n/a	chr12:22196164-22196175
4	NR3C1	chr12:22196100-22196505	A549	lung:	n/a	n/a
5	CEBPB	chr12:22196008-22196505	Hela-S3	cervix:	n/a	chr12:22196164-22196175
6	FOXA1	chr12:22196259-22196492	T-47D	breast:	n/a	n/a
7	FOS	chr12:22195763-22196503	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
8	RCOR1	chr12:22195657-22196507	IMR90	lung:	n/a	n/a
9	MYC	chr12:22195865-22196477	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:22195542-22196549	MCF10A-Er-Src	breast:	n/a	chr12:22195997-22196006
11	FOSL2	chr12:22195869-22196617	A549	lung:	n/a	chr12:22195997-22196006
12	CEBPB	chr12:22196030-22196504	HepG2	liver:	n/a	chr12:22196164-22196175
13	FOXA1	chr12:22196235-22196624	T-47D	breast:	n/a	chr12:22196595-22196607

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:33 , 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	chr12:22195000-22196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:22195000-22196600	Enhancers	Osteobl	bone
6	chr12:22195000-22198600	Enhancers	K562	blood
7	chr12:22195000-22198800	Enhancers	HepG2	liver
8	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
9	chr12:22195200-22197200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:22195600-22197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:22195800-22196800	Flanking Active TSS	A549	lung
12	chr12:22195800-22198600	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:22196000-22197400	Weak transcription	Colonic Mucosa	Colon
14	chr12:22196000-22199000	Enhancers	Fetal Intestine Large	intestine
15	chr12:22196200-22196600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:22196200-22197200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:22196200-22197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:22196200-22197800	Enhancers	Stomach Mucosa	stomach
19	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:22196400-22196600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:22196400-22196600	Enhancers	Fetal Kidney	kidney
22	chr12:22196400-22197000	Weak transcription	Pancreas	Pancrea
23	chr12:22196400-22197400	Weak transcription	Small Intestine	intestine
24	chr12:22196400-22198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:22196400-22198600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:22196400-22199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:22196400-22199000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:22196400-22199000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:22196400-22199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:22196400-22199000	Weak transcription	NHLF	lung
31	chr12:22196400-22199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:22196400-22199200	Weak transcription	HMEC	breast
33	chr12:22196400-22199200	Weak transcription	NH-A	brain

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