Variant report

Variant	rs570473996
Chromosome Location	chr6:132128869-132128870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:132128828-132128948	MCF10A-Er-Src	breast:	n/a	chr6:132128892-132128902
2	HA-E2F1	chr6:132128481-132129834	MCF-7	breast:	n/a	chr6:132129428-132129438
3	BACH1	chr6:132128627-132129037	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:132128685-132128870	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:132128720-132128870	HMF	breast:	n/a	n/a
6	CTCF	chr6:132128710-132128956	Fibrobl	skin:	n/a	n/a
7	CTCF	chr6:132128800-132128950	SAEC	small airway:	n/a	n/a
8	RAD21	chr6:132128728-132128962	K562	blood:	n/a	n/a
9	CTCF	chr6:132128658-132129029	K562	blood:	n/a	n/a
10	MAZ	chr6:132128782-132129052	Hela-S3	cervix:	n/a	chr6:132128892-132128902
11	CTCF	chr6:132128740-132128890	K562	blood:	n/a	n/a
12	CTCF	chr6:132128800-132128950	MCF-7	breast:	n/a	n/a
13	E2F6	chr6:132128567-132129010	A549	lung:	n/a	n/a
14	CTCF	chr6:132128760-132128910	Caco-2	colon:	n/a	n/a
15	RCOR1	chr6:132128793-132128901	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr6:132128209-132129880	IMR90	lung:	n/a	chr6:132128892-132128902
17	MAX	chr6:132128679-132128906	K562	blood:	n/a	chr6:132128892-132128902
18	RAD21	chr6:132128614-132129047	HepG2	liver:	n/a	n/a
19	CTCF	chr6:132128720-132128870	HRE	kidney:	n/a	n/a
20	HDAC2	chr6:132128448-132129077	HepG2	liver:	n/a	chr6:132128474-132128483
21	POLR2A	chr6:132128782-132129307	HepG2	liver:	n/a	n/a
22	RAD21	chr6:132128622-132128958	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr6:132128748-132128906	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:132128457-132129782	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:132128751-132128883	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:132128720-132128870	AG04449	skin:	n/a	n/a
27	CTCF	chr6:132128720-132128870	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr6:132128757-132128874	GM19238	blood:	n/a	n/a
29	SMC3	chr6:132128612-132128968	HepG2	liver:	n/a	n/a
30	TBP	chr6:132128864-132129635	HepG2	liver:	n/a	n/a
31	RAD21	chr6:132128585-132129075	ECC-1	luminal epithelium:	n/a	n/a
32	HEY1	chr6:132128635-132129864	HepG2	liver:	n/a	n/a
33	CTCF	chr6:132128760-132128910	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr6:132128740-132128890	HVMF	connective:	n/a	n/a
35	CTCF	chr6:132128740-132128890	Caco-2	colon:	n/a	n/a
36	HEY1	chr6:132128746-132129084	HepG2	liver:	n/a	n/a
37	CTCF	chr6:132128760-132128910	AG09319	gingival:	n/a	n/a
38	CREB1	chr6:132128465-132129850	HepG2	liver:	n/a	n/a
39	MAX	chr6:132128446-132129843	HepG2	liver:	n/a	chr6:132128892-132128902
40	POLR2A	chr6:132128818-132129564	MCF-7	breast:	n/a	n/a
41	CTBP2	chr6:132128580-132129756	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr6:132128760-132128910	MCF-7	breast:	n/a	n/a
43	POLR2A	chr6:132128569-132129095	U87	brain:	n/a	n/a
44	RAD21	chr6:132128573-132129084	HepG2	liver:	n/a	n/a
45	MAX	chr6:132128578-132129739	MCF-7	breast:	n/a	chr6:132128892-132128902
46	E2F6	chr6:132128771-132128940	K562	blood:	n/a	n/a
47	CTCF	chr6:132128720-132128870	AG04450	lung:	n/a	n/a
48	SIN3A	chr6:132128489-132129041	H1-hESC	embryonic stem cell:	n/a	n/a
49	NFIC	chr6:132128536-132129339	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr6:132128768-132129092	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:132128149..132132112-chr6:132147030..132152072,5	MCF-7	breast:
2	chr6:132127914..132130474-chr8:77911866..77914153,2	MCF-7	breast:
3	chr6:132127756..132130246-chr6:132148008..132150797,2	MCF-7	breast:
4	chr6:132126867..132133246-chr6:132138030..132146402,10	MCF-7	breast:
5	chr6:132126588..132131688-chr6:132138399..132143000,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENPP1	TF binding region
ENSG00000200895	Chromatin interaction
ENSG00000219532	Chromatin interaction
ENSG00000164751	Chromatin interaction
ENSG00000237115	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv5479	chr6:132101897-132136593	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	esv3423490	chr6:132127884-132130632	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
8	esv3434209	chr6:132128409-132130407	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132128000-132130400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:132128200-132129000	Enhancers	Stomach Mucosa	stomach
3	chr6:132128200-132129400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:132128200-132129400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
5	chr6:132128200-132129600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:132128200-132129600	Active TSS	Brain Cingulate Gyrus	brain
7	chr6:132128200-132129600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:132128200-132129800	Active TSS	Brain Angular Gyrus	brain
9	chr6:132128200-132129800	Active TSS	Brain Hippocampus Middle	brain
10	chr6:132128200-132130000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:132128200-132130000	Active TSS	Fetal Kidney	kidney
12	chr6:132128200-132130200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:132128200-132130200	Active TSS	Brain Anterior Caudate	brain
14	chr6:132128200-132130200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:132128200-132130200	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:132128200-132130400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:132128200-132130800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:132128400-132129000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr6:132128400-132129000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:132128400-132129000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:132128400-132129200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:132128400-132129400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:132128400-132129400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:132128400-132129400	Active TSS	Brain Germinal Matrix	brain
25	chr6:132128400-132129400	Active TSS	Fetal Brain Female	brain
26	chr6:132128400-132129400	Active TSS	HMEC	breast
27	chr6:132128400-132129600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:132128400-132129600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:132128400-132129600	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr6:132128400-132129600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:132128400-132129600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:132128400-132129600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:132128400-132129600	Active TSS	Colon Smooth Muscle	Colon
34	chr6:132128400-132129600	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:132128400-132129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:132128400-132129800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:132128400-132129800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:132128400-132129800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:132128400-132129800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:132128400-132129800	Active TSS	Right Ventricle	heart
41	chr6:132128400-132130000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:132128400-132130000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:132128400-132130000	Active TSS	Brain Substantia Nigra	brain
44	chr6:132128400-132130000	Active TSS	Fetal Intestine Large	intestine
45	chr6:132128400-132130000	Active TSS	Ovary	ovary
46	chr6:132128400-132130200	Active TSS	Left Ventricle	heart
47	chr6:132128400-132130200	Active TSS	Pancreas	Pancrea
48	chr6:132128400-132130200	Active TSS	Psoas Muscle	Psoas
49	chr6:132128400-132130200	Active TSS	Right Atrium	heart
50	chr6:132128400-132130200	Bivalent/Poised TSS	Thymus	Thymus

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