Variant report

Variant	rs533518887
Chromosome Location	chr7:101458197-101458198
allele	A/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	CTCF	chr7:101457412-101459603	A549	lung:	n/a	chr7:101457575-101457593 chr7:101458936-101458949 chr7:101458934-101458952
2	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
3	RCOR1	chr7:101457339-101459438	K562	blood:	n/a	n/a
4	RAD21	chr7:101458195-101458371	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:101457221-101459008	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
6	RFX5	chr7:101456872-101458425	Hela-S3	cervix:	n/a	n/a
7	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
8	MAX	chr7:101457235-101459017	SK-N-SH	brain:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
9	REST	chr7:101457889-101458499	A549	lung:	n/a	n/a
10	BCL3	chr7:101457787-101458519	A549	lung:	n/a	chr7:101457901-101457910
11	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
12	MYC	chr7:101457348-101458402	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
13	EP300	chr7:101457932-101458865	A549	lung:	n/a	n/a
14	MYC	chr7:101457041-101459415	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
15	POLR2A	chr7:101457992-101458636	U87	brain:	n/a	n/a
16	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
17	MTA3	chr7:101457928-101458760	GM12878	blood:	n/a	n/a
18	TCF7L2	chr7:101458118-101458597	HEK293	kidney:	n/a	n/a
19	POLR2A	chr7:101457594-101459480	MCF10A-Er-Src	breast:	n/a	n/a
20	ARID3A	chr7:101457908-101458208	HepG2	liver:	n/a	n/a
21	TCF12	chr7:101457506-101459464	A549	lung:	n/a	chr7:101457852-101457859
22	MAFK	chr7:101458049-101458449	Hela-S3	cervix:	n/a	n/a
23	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr7:101458018-101458764	GM12878	blood:	n/a	n/a
25	MYC	chr7:101458122-101458312	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr7:101456952-101458359	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:101458145-101458694	ProgFib	skin:	n/a	n/a
28	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
29	POLR2A	chr7:101458114-101459617	K562	blood:	n/a	n/a
30	CEBPB	chr7:101457801-101458438	K562	blood:	n/a	n/a
31	POLR2A	chr7:101458194-101458863	HL-60	blood:	n/a	n/a
32	E2F6	chr7:101457172-101458704	A549	lung:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
33	EP300	chr7:101457778-101459595	ECC-1	luminal epithelium:	n/a	chr7:101459191-101459207 chr7:101459192-101459201 chr7:101459195-101459204 chr7:101458873-101458889 chr7:101459226-101459235 chr7:101458886-101458902
34	CTCF	chr7:101458080-101458230	Caco-2	colon:	n/a	n/a
35	MAX	chr7:101458098-101459024	HepG2	liver:	n/a	n/a
36	HEY1	chr7:101458082-101458978	K562	blood:	n/a	n/a
37	MYC	chr7:101457231-101459329	Hela-S3	cervix:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
38	CTCF	chr7:101458160-101458310	RPTEC	kidney:	n/a	n/a
39	POLR2A	chr7:101457542-101459674	H1-neurons	neurons:	n/a	n/a
40	CUX1	chr7:101457955-101458390	K562	blood:	n/a	n/a
41	MAX	chr7:101457362-101458783	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
42	MYC	chr7:101457367-101458471	MCF10A-Er-Src	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
43	EP300	chr7:101458038-101458472	K562	blood:	n/a	n/a
44	GTF2F1	chr7:101457939-101458483	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:101458140-101458290	AG04450	lung:	n/a	n/a
46	EGR1	chr7:101458107-101459043	HCT-116	colon:	n/a	chr7:101458877-101458887 chr7:101458876-101458889 chr7:101458680-101458690 chr7:101458876-101458889 chr7:101458875-101458890 chr7:101458685-101458694 chr7:101458680-101458690 chr7:101458871-101458881 chr7:101458674-101458696 chr7:101458876-101458889 chr7:101458680-101458691 chr7:101458678-101458692 chr7:101458877-101458886 chr7:101458680-101458691 chr7:101458679-101458692
47	REST	chr7:101458184-101458574	A549	lung:	n/a	chr7:101458510-101458519
48	POLR2A	chr7:101457998-101458622	U87	brain:	n/a	n/a
49	HDAC2	chr7:101458156-101459011	HepG2	liver:	n/a	n/a
50	MAX	chr7:101456804-101459411	NB4	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379

No.	Distal block	Cell Line	Cell type
1	chr3:127394387..127395170-chr7:101458070..101458842,2	Hela-S3	cervix:
2	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
3	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
4	chr15:52469891..52472535-chr7:101457623..101459859,2	MCF-7	breast:
5	chr13:48611688..48613332-chr7:101457559..101460225,2	MCF-7	breast:
6	chr7:101271948..101273835-chr7:101457651..101460196,2	MCF-7	breast:
7	chr1:156084197..156084939-chr7:101457529..101458250,2	Hela-S3	cervix:
8	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
9	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
10	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
11	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
12	chr12:56572158..56573016-chr7:101457560..101458297,2	Hela-S3	cervix:
13	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
14	chr20:39764220..39767002-chr7:101458142..101460292,2	MCF-7	breast:
15	chr12:53297960..53298460-chr7:101458053..101458556,2	Hela-S3	cervix:
16	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
17	chr1:201682650..201683305-chr7:101457575..101458388,2	Hela-S3	cervix:
18	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
19	chr12:125398918..125401326-chr7:101458032..101459768,2	K562	blood:
20	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000139613	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000124181	Chromatin interaction
ENSG00000160963	Chromatin interaction
ENSG00000226648	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000114626	Chromatin interaction
ENSG00000259294	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000265345	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000160789	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000106436	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv824244	chr7:101452564-101464341	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
10	nsv824245	chr7:101455132-101461951	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
11	esv20678	chr7:101457194-101460796	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	esv3396517	chr7:101457757-101461105	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
13	nsv824246	chr7:101457830-101461416	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
7	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
8	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
10	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
14	chr7:101457000-101461400	Active TSS	Ovary	ovary
15	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
16	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
18	chr7:101457200-101458400	Active TSS	Right Ventricle	heart
19	chr7:101457200-101458800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:101457200-101458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:101457200-101458800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:101457200-101459400	Active TSS	A549	lung
23	chr7:101457200-101460800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:101457200-101461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:101457200-101461000	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:101457200-101461000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:101457200-101461000	Active TSS	Left Ventricle	heart
28	chr7:101457200-101461000	Active TSS	Thymus	Thymus
29	chr7:101457200-101461200	Active TSS	Aorta	Aorta
30	chr7:101457200-101461400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:101457200-101461400	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:101457200-101461800	Active TSS	Right Atrium	heart
34	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
35	chr7:101457400-101458200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:101457400-101458400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:101457400-101458400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:101457400-101458400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:101457400-101458600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr7:101457400-101458600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr7:101457400-101458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:101457400-101458800	Flanking Active TSS	Liver	Liver
43	chr7:101457400-101460800	Active TSS	Spleen	Spleen
44	chr7:101457400-101461000	Active TSS	Esophagus	oesophagus
45	chr7:101457400-101461000	Active TSS	Lung	lung
46	chr7:101457400-101461000	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr7:101457400-101461200	Active TSS	Gastric	stomach
48	chr7:101457400-101461200	Active TSS	Small Intestine	intestine
49	chr7:101457400-101461400	Active TSS	HSMMtube	muscle
50	chr7:101457400-101461400	Active TSS	NHLF	lung

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