Variant report

Variant	rs533711960
Chromosome Location	chr6:109804948-109804949
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	POLR2A	chr6:109804780-109805018	HCT-116	colon:	n/a	n/a
2	POLR2A	chr6:109804783-109804949	A549	lung:	n/a	n/a
3	POLR2A	chr6:109803944-109805084	K562	blood:	n/a	n/a
4	ZBTB7A	chr6:109804572-109804958	K562	blood:	n/a	n/a
5	POLR2A	chr6:109804102-109805063	K562	blood:	n/a	n/a
6	POLR2A	chr6:109804821-109804959	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:109804786-109804968	K562	blood:	n/a	n/a
8	RUNX3	chr6:109804752-109805098	GM12878	blood:	n/a	n/a
9	MAX	chr6:109803788-109805016	NB4	blood:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804470-109804480 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
10	POLR2A	chr6:109803635-109805111	Raji	blood:	n/a	n/a
11	MXI1	chr6:109803921-109804988	HepG2	liver:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
12	POLR2A	chr6:109804780-109805013	U87	brain:	n/a	n/a
13	POLR2A	chr6:109804846-109805031	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr6:109803806-109805003	Hela-S3	cervix:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
15	POLR2A	chr6:109803761-109805076	HEK293	kidney:	n/a	n/a
16	POLR2A	chr6:109804771-109805054	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr6:109804794-109804972	A549	lung:	n/a	n/a
18	POLR2A	chr6:109804816-109804987	Gliobla	brain:	n/a	n/a
19	IRF1	chr6:109804297-109805329	K562	blood:	n/a	chr6:109805018-109805031 chr6:109804343-109804357
20	POLR2A	chr6:109804776-109805088	U87	brain:	n/a	n/a
21	MXI1	chr6:109804945-109805042	GM12878	blood:	n/a	n/a
22	HCFC1	chr6:109803636-109805262	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr6:109804125-109805037	GM12878	blood:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
24	POLR2A	chr6:109804132-109805085	K562	blood:	n/a	n/a
25	MAX	chr6:109804919-109805068	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:109804763-109804959	A549	lung:	n/a	n/a
27	POLR2A	chr6:109804839-109805031	A549	lung:	n/a	n/a
28	MXI1	chr6:109803674-109805276	IMR90	lung:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
29	POLR2A	chr6:109804818-109805028	ProgFib	skin:	n/a	n/a
30	POLR2A	chr6:109804761-109805040	K562	blood:	n/a	n/a
31	CHD2	chr6:109804045-109805000	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr6:109803160-109805900	SK-N-SH	brain:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
33	MAZ	chr6:109803443-109805739	IMR90	lung:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109805428-109805437 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
34	POLR2A	chr6:109804790-109805131	SK-N-MC	brain:	n/a	n/a
35	USF1	chr6:109804130-109805057	HCT-116	colon:	n/a	n/a
36	EP300	chr6:109804926-109805059	GM12878	blood:	n/a	n/a
37	CCNT2	chr6:109803978-109805009	K562	blood:	n/a	chr6:109804230-109804239
38	POLR2A	chr6:109804793-109805030	ECC-1	luminal epithelium:	n/a	n/a
39	USF2	chr6:109804912-109805147	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:109804811-109805066	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr6:109804769-109804948	A549	lung:	n/a	n/a
42	NRF1	chr6:109804908-109805054	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:109804762-109805232	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr6:109804856-109805040	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr6:109804773-109805042	ECC-1	luminal epithelium:	n/a	n/a
46	ZNF143	chr6:109804199-109805002	GM12878	blood:	n/a	chr6:109804395-109804405
47	MAZ	chr6:109803841-109805063	K562	blood:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
48	POLR2A	chr6:109804081-109805045	GM18526	blood:	n/a	n/a
49	POLR2A	chr6:109804682-109805097	HCT-116	colon:	n/a	n/a
50	MAX	chr6:109803777-109805150	HCT-116	colon:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804470-109804480 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483

No.	Distal block	Cell Line	Cell type
1	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
2	chr6:109804505..109806373-chr6:109808766..109811459,2	K562	blood:
3	chr6:109702597..109705942-chr6:109803330..109806291,3	K562	blood:
4	chr6:31782365..31783340-chr6:109804610..109805551,2	Hela-S3	cervix:
5	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
6	chr6:109703226..109705290-chr6:109802868..109805423,2	K562	blood:
7	chr6:109700978..109703685-chr6:109804896..109807033,2	MCF-7	breast:
8	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
9	chr6:109804488..109806145-chr6:109811754..109813384,2	K562	blood:
10	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223537	TF binding region
ZBTB24	TF binding region
ENSG00000135587	Chromatin interaction
ENSG00000185250	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000223537	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000135535	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	esv3377564	chr6:109803284-109806132	Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	esv3324958	chr6:109803709-109805707	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109803000-109805000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:109803200-109805000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:109803200-109805000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:109803200-109805000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:109803200-109805000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:109803200-109805000	Active TSS	Aorta	Aorta
7	chr6:109803200-109805000	Active TSS	Fetal Kidney	kidney
8	chr6:109803200-109805200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:109803200-109805400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:109803400-109805000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:109803400-109805000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:109803400-109805000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:109803400-109805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:109803400-109805000	Active TSS	A549	lung
15	chr6:109803400-109805000	Active TSS	Hela-S3	cervix
16	chr6:109803400-109805000	Active TSS	K562	blood
17	chr6:109803400-109805000	Active TSS	NH-A	brain
18	chr6:109803400-109805000	Active TSS	NHDF-Ad	bronchial
19	chr6:109803400-109805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:109803400-109805200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:109803400-109805200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:109803400-109805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:109803400-109805200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr6:109803400-109805200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:109803400-109805200	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:109803400-109805200	Active TSS	Osteobl	bone
27	chr6:109803400-109805400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:109803400-109805400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:109803400-109805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:109803400-109805400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:109803400-109805400	Active TSS	GM12878-XiMat	blood
32	chr6:109803400-109805400	Active TSS	NHEK	skin
33	chr6:109803400-109805400	Active TSS	NHLF	lung
34	chr6:109803600-109805000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr6:109803600-109805000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:109803600-109805000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:109803600-109805000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:109803600-109805000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:109803600-109805000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:109803600-109805000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:109803600-109805000	Active TSS	Brain Angular Gyrus	brain
42	chr6:109803600-109805000	Active TSS	Brain Anterior Caudate	brain
43	chr6:109803600-109805000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:109803600-109805000	Active TSS	Brain Substantia Nigra	brain
45	chr6:109803600-109805000	Active TSS	Duodenum Mucosa	Duodenum
46	chr6:109803600-109805000	Active TSS	Esophagus	oesophagus
47	chr6:109803600-109805000	Active TSS	Fetal Brain Female	brain
48	chr6:109803600-109805000	Active TSS	Fetal Intestine Small	intestine
49	chr6:109803600-109805000	Active TSS	Fetal Lung	lung
50	chr6:109803600-109805000	Active TSS	Pancreas	Pancrea

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