Variant report

Variant	rs570558607
Chromosome Location	chr6:150184465-150184466
allele	A/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	chr6:150184235-150186075	MCF-7	breast:	n/a	chr6:150185270-150185280
2	POLR2A	chr6:150184170-150184598	HepG2	liver:	n/a	n/a
3	TCF12	chr6:150184219-150184715	A549	lung:	n/a	n/a
4	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
5	SMC3	chr6:150184169-150186458	Hela-S3	cervix:	n/a	chr6:150185239-150185249
6	YY1	chr6:150184391-150185682	K562	blood:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
7	RAD21	chr6:150183910-150186688	SK-N-SH	brain:	n/a	chr6:150184360-150184374 chr6:150185705-150185718 chr6:150185250-150185264
8	CEBPB	chr6:150184008-150185779	Hela-S3	cervix:	n/a	chr6:150184098-150184115
9	MAX	chr6:150184393-150185665	NB4	blood:	n/a	chr6:150185270-150185280
10	STAT3	chr6:150184070-150184539	MCF10A-Er-Src	breast:	n/a	chr6:150184284-150184291 chr6:150184284-150184298
11	POLR2A	chr6:150183914-150185821	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:150184449-150185949	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr6:150184446-150185820	HepG2	liver:	n/a	n/a
14	TCF7L2	chr6:150183911-150185124	Hela-S3	cervix:	n/a	n/a
15	HDAC2	chr6:150184414-150184737	K562	blood:	n/a	n/a
16	HEY1	chr6:150184357-150184784	HepG2	liver:	n/a	n/a
17	HA-E2F1	chr6:150184289-150185593	Hela-S3	cervix:	n/a	chr6:150184350-150184359
18	BACH1	chr6:150184213-150184496	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr6:150184438-150184626	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:150184113-150186548	HCT-116	colon:	n/a	chr6:150185270-150185280
21	POLR2A	chr6:150184456-150184783	A549	lung:	n/a	n/a
22	POLR2A	chr6:150184355-150185795	Gliobla	brain:	n/a	n/a
23	POLR2A	chr6:150184356-150185941	MCF-7	breast:	n/a	n/a
24	MAX	chr6:150184437-150185836	HepG2	liver:	n/a	chr6:150185270-150185280
25	MYC	chr6:150184183-150185666	NB4	blood:	n/a	chr6:150185270-150185280
26	YY1	chr6:150184284-150185922	HepG2	liver:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
27	FOS	chr6:150184284-150184526	MCF10A-Er-Src	breast:	n/a	chr6:150184355-150184364
28	E2F6	chr6:150184379-150184802	K562	blood:	n/a	n/a
29	RCOR1	chr6:150184136-150184669	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:150184450-150184794	A549	lung:	n/a	n/a
31	HEY1	chr6:150184339-150184862	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:150184259-150184745	Hela-S3	cervix:	n/a	n/a
33	YY1	chr6:150184408-150185532	H1-hESC	embryonic stem cell:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
34	YY1	chr6:150184314-150184550	SK-N-SH_RA	brain:	n/a	n/a
35	MXI1	chr6:150183904-150186614	SK-N-SH	brain:	n/a	n/a
36	MAX	chr6:150184414-150185867	K562	blood:	n/a	chr6:150185270-150185280
37	POLR2A	chr6:150184397-150185904	A549	lung:	n/a	n/a
38	CHD1	chr6:150181747-150185902	IMR90	lung:	n/a	chr6:150185305-150185315
39	NFIC	chr6:150184125-150185763	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr6:150184426-150185839	ProgFib	skin:	n/a	n/a
41	REST	chr6:150184385-150185848	MCF-7	breast:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
42	NFIC	chr6:150184086-150184804	SK-N-SH	brain:	n/a	n/a
43	REST	chr6:150184375-150185860	ECC-1	luminal epithelium:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
44	POLR2A	chr6:150184375-150184794	Hela-S3	cervix:	n/a	n/a
45	MAX	chr6:150184053-150185754	Hela-S3	cervix:	n/a	chr6:150185270-150185280
46	HDAC2	chr6:150184291-150185103	MCF-7	breast:	n/a	n/a
47	TAF1	chr6:150184269-150185828	ECC-1	luminal epithelium:	n/a	n/a
48	REST	chr6:150184342-150185860	PFSK-1	brain:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
49	MXI1	chr6:150184000-150186450	IMR90	lung:	n/a	n/a
50	POLR2A	chr6:150184197-150184689	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:150156036..150158963-chr6:150184147..150187311,3	MCF-7	breast:
2	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
3	chr6:149967481..149969834-chr6:150184237..150185789,2	K562	blood:
4	chr6:150067770..150069561-chr6:150184088..150185718,2	MCF-7	breast:
5	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
6	chr6:150183832..150186232-chr6:150215270..150224001,9	MCF-7	breast:
7	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000203722	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000223701	Chromatin interaction
ENSG00000164520	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000120256	Chromatin interaction

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	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3437961	chr6:150182459-150187257	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv823860	chr6:150183482-150186226	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150182000-150186200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:150183600-150185400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:150183600-150185600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:150183600-150185800	Active TSS	HSMMtube	muscle
5	chr6:150183600-150186000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:150183600-150186000	Active TSS	Duodenum Mucosa	Duodenum
7	chr6:150183600-150186000	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:150183600-150186200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:150183600-150186200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:150183600-150186200	Active TSS	Brain Anterior Caudate	brain
11	chr6:150183600-150186200	Active TSS	NHLF	lung
12	chr6:150183600-150186400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:150183600-150186400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:150183600-150186400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:150183600-150186400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:150183600-150186400	Active TSS	A549	lung
17	chr6:150183600-150186600	Active TSS	Brain Angular Gyrus	brain
18	chr6:150183800-150184600	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr6:150183800-150185200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:150183800-150185600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:150183800-150185600	Active TSS	Pancreas	Pancrea
22	chr6:150183800-150185600	Active TSS	Stomach Smooth Muscle	stomach
23	chr6:150183800-150185600	Active TSS	HMEC	breast
24	chr6:150183800-150185600	Active TSS	NHEK	skin
25	chr6:150183800-150185800	Active TSS	HepG2	liver
26	chr6:150183800-150185800	Active TSS	NHDF-Ad	bronchial
27	chr6:150183800-150186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:150183800-150186000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:150183800-150186000	Active TSS	Colon Smooth Muscle	Colon
30	chr6:150183800-150186000	Active TSS	Esophagus	oesophagus
31	chr6:150183800-150186000	Active TSS	Hela-S3	cervix
32	chr6:150183800-150186000	Active TSS	HSMM	muscle
33	chr6:150183800-150186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:150183800-150186200	Active TSS	Right Ventricle	heart
35	chr6:150183800-150186400	Active TSS	Osteobl	bone
36	chr6:150183800-150186600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:150184000-150184600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:150184000-150184600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:150184000-150184600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:150184000-150184800	Active TSS	Colonic Mucosa	Colon
41	chr6:150184000-150185000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:150184000-150185200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:150184000-150185200	Bivalent/Poised TSS	Thymus	Thymus
44	chr6:150184000-150185600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:150184000-150185600	Active TSS	Fetal Intestine Small	intestine
46	chr6:150184000-150185600	Active TSS	Lung	lung
47	chr6:150184000-150185600	Active TSS	Psoas Muscle	Psoas
48	chr6:150184000-150185600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr6:150184000-150185800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr6:150184000-150186000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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