Variant report

Variant	rs560800227
Chromosome Location	chr12:49297375-49297376
allele	C/G
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	CEBPB	chr12:49297164-49297517	A549	lung:	n/a	chr12:49297329-49297340
2	CEBPB	chr12:49297263-49297446	HepG2	liver:	n/a	chr12:49297329-49297340
3	CTCF	chr12:49297284-49297401	GM10248	blood:	n/a	n/a
4	CTCF	chr12:49297360-49297510	WI-38	lung:	n/a	n/a
5	CEBPB	chr12:49297164-49297527	IMR90	lung:	n/a	chr12:49297329-49297340
6	CTCF	chr12:49296905-49298557	A549	lung:	n/a	n/a
7	CEBPB	chr12:49297175-49297521	HepG2	liver:	n/a	chr12:49297329-49297340
8	STAT3	chr12:49297323-49297424	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr12:49297360-49297510	GM12875	blood:	n/a	n/a
10	CTCF	chr12:49297260-49297410	GM12869	blood:	n/a	n/a
11	POLR2A	chr12:49297284-49297414	GM12878	blood:	n/a	n/a
12	FOXA2	chr12:49297266-49297558	HepG2	liver:	n/a	n/a
13	CTCF	chr12:49297260-49297410	GM12872	blood:	n/a	n/a
14	ZBTB33	chr12:49297139-49297423	K562	blood:	n/a	n/a
15	CTCF	chr12:49297240-49297390	GM12878	blood:	n/a	n/a
16	CEBPB	chr12:49297178-49297581	MCF-7	breast:	n/a	chr12:49297329-49297340
17	CEBPB	chr12:49297233-49297486	H1-hESC	embryonic stem cell:	n/a	chr12:49297329-49297340
18	MYC	chr12:49297327-49297411	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr12:49297360-49297510	GM12874	blood:	n/a	n/a
20	FOXA1	chr12:49297248-49297646	HepG2	liver:	n/a	n/a
21	CTCF	chr12:49297240-49297390	HCPEpiC	choroid plexus:	n/a	n/a
22	CEBPB	chr12:49297166-49297524	K562	blood:	n/a	chr12:49297329-49297340
23	CTCF	chr12:49297340-49297490	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49207912..49209568-chr12:49296260..49299188,2	K562	blood:

Variant related genes	Relation type
CCDC65	TF binding region
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv983320	chr12:49297256-49298066	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49293200-49297400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:49295200-49297400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:49295400-49297400	Weak transcription	Fetal Intestine Large	intestine
4	chr12:49296800-49298000	Weak transcription	Lung	lung
5	chr12:49297000-49297400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:49297000-49297800	Bivalent Enhancer	Primary T cells from cord blood	blood
7	chr12:49297200-49297400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:49297200-49297400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:49297200-49297400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:49297200-49297400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr12:49297200-49297400	Enhancers	Adipose Nuclei	Adipose
12	chr12:49297200-49297400	Active TSS	Fetal Intestine Small	intestine
13	chr12:49297200-49297400	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr12:49297200-49297400	Enhancers	Pancreas	Pancrea
15	chr12:49297200-49297400	Enhancers	GM12878-XiMat	blood
16	chr12:49297200-49297400	Flanking Active TSS	HepG2	liver
17	chr12:49297200-49297400	Enhancers	HUVEC	blood vessel
18	chr12:49297200-49297600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:49297200-49297600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:49297200-49297600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:49297200-49297600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr12:49297200-49297600	Flanking Active TSS	A549	lung
23	chr12:49297200-49297600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:49297200-49297800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:49297200-49297800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:49297200-49297800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:49297200-49297800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:49297200-49297800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:49297200-49297800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:49297200-49297800	Enhancers	Fetal Muscle Leg	muscle
31	chr12:49297200-49297800	Enhancers	Left Ventricle	heart
32	chr12:49297200-49298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:49297200-49298400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:49297200-49298400	Active TSS	Brain Substantia Nigra	brain

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