Variant report

Variant	rs45489697
Chromosome Location	chr6:133056408-133056409
allele	G/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	MAX	chr6:133055576-133056726	NB4	blood:	n/a	n/a
2	RAD21	chr6:133056099-133056423	H1-hESC	embryonic stem cell:	n/a	chr6:133056287-133056306
3	CTCF	chr6:133056300-133056450	HFF-Myc	foreskin:	n/a	n/a
4	FOS	chr6:133055608-133056441	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr6:133055562-133056744	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr6:133056110-133056448	IMR90	lung:	n/a	chr6:133056287-133056306
7	RAD21	chr6:133056134-133056434	H1-hESC	embryonic stem cell:	n/a	chr6:133056287-133056306
8	RAD21	chr6:133056131-133056441	A549	lung:	n/a	chr6:133056287-133056306
9	CTCF	chr6:133056032-133056564	HCT-116	colon:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
10	CTCF	chr6:133056320-133056470	WI-38	lung:	n/a	n/a
11	MYBL2	chr6:133055609-133056437	HepG2	liver:	n/a	n/a
12	CTCF	chr6:133056113-133056465	IMR90	lung:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
13	SMC3	chr6:133055782-133056438	HepG2	liver:	n/a	n/a
14	CTCF	chr6:133056178-133056422	A549	lung:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
15	STAT3	chr6:133055538-133056481	MCF10A-Er-Src	breast:	n/a	chr6:133055949-133055957
16	CTCF	chr6:133056233-133056435	ECC-1	luminal epithelium:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
17	CTCF	chr6:133056260-133056410	GM12873	blood:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
18	CTCF	chr6:133056260-133056410	NHEK	skin:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
19	CTCF	chr6:133056260-133056410	HAc	cerebellar:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
20	CTCF	chr6:133056120-133056466	GM12878	blood:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
21	ARID3A	chr6:133055702-133056460	HepG2	liver:	n/a	n/a
22	STAT3	chr6:133055552-133056837	MCF10A-Er-Src	breast:	n/a	chr6:133055949-133055957
23	CTCF	chr6:133056129-133056463	K562	blood:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
24	RAD21	chr6:133056150-133056427	MCF-7	breast:	n/a	chr6:133056287-133056306
25	RAD21	chr6:133056069-133056465	HCT-116	colon:	n/a	chr6:133056287-133056306
26	CTCF	chr6:133056260-133056410	GM12866	blood:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
27	POLR2A	chr6:133055092-133056842	MCF10A-Er-Src	breast:	n/a	n/a
28	RAD21	chr6:133056058-133056476	HCT-116	colon:	n/a	chr6:133056287-133056306
29	FOXA2	chr6:133055019-133057117	HepG2	liver:	n/a	n/a
30	CTCF	chr6:133056360-133056510	GM12871	blood:	n/a	n/a
31	CTCF	chr6:133056260-133056410	BJ	skin:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
32	RAD21	chr6:133056167-133056428	ECC-1	luminal epithelium:	n/a	chr6:133056287-133056306
33	CTCF	chr6:133056260-133056410	HPAF	blood vessel:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
34	MYC	chr6:133055697-133056658	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr6:133056224-133056408	LNCaP	prostate:	n/a	chr6:133056289-133056307 chr6:133056284-133056305 chr6:133056290-133056306
36	STAT3	chr6:133055697-133056459	MCF10A-Er-Src	breast:	n/a	chr6:133055949-133055957
37	RAD21	chr6:133056121-133056453	A549	lung:	n/a	chr6:133056287-133056306
38	POLR2A	chr6:133054417-133058306	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr6:133056175-133056437	HepG2	liver:	n/a	chr6:133056287-133056306

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133054032..133057251-chr6:133136548..133139421,3	K562	blood:
2	chr6:133054047..133059196-chr6:133082600..133087082,5	MCF-7	breast:

Variant related genes	Relation type
VNN3	TF binding region
ENSG00000200534	Chromatin interaction
ENSG00000221500	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000112303	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs36031328	0.92[AFR][1000 genomes]
rs45548039	1.00[AFR][1000 genomes]
rs45584034	1.00[AMR][1000 genomes]

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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133044400-133066200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:133052400-133058800	Enhancers	Stomach Mucosa	stomach
3	chr6:133052600-133056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:133053400-133056800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:133054400-133058400	Enhancers	HepG2	liver
6	chr6:133055000-133058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:133055200-133057800	Weak transcription	Small Intestine	intestine
8	chr6:133055200-133064800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:133055600-133056600	Enhancers	Placenta	Placenta
10	chr6:133055800-133056600	Weak transcription	NHDF-Ad	bronchial
11	chr6:133056000-133056600	Active TSS	Primary B cells from cord blood	blood
12	chr6:133056000-133057200	Weak transcription	Hela-S3	cervix
13	chr6:133056000-133058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:133056000-133058400	Enhancers	Liver	Liver
15	chr6:133056000-133059000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:133056200-133056600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:133056200-133056800	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:133056400-133056800	Enhancers	Pancreas	Pancrea

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