Variant report

Variant	nsv964032
Chromosome Location	chr4:9784827-9802611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:9794956-9795000	A549	lung:	n/a	n/a
2	CTCF	chr4:9797420-9797570	WERI-Rb-1	eye:	n/a	n/a
3	EBF1	chr4:9802592-9802691	GM12878	blood:	n/a	n/a
4	FOS	chr4:9794174-9794374	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:9793588-9793784	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:9794088-9794355	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:9794154-9794338	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL2	chr4:9798259-9798665	HepG2	liver:	n/a	n/a
9	FOSL2	chr4:9784693-9785308	HepG2	liver:	n/a	n/a
10	FOSL2	chr4:9786636-9786932	HepG2	liver:	n/a	n/a
11	FOSL2	chr4:9786605-9787073	HepG2	liver:	n/a	n/a
12	FOSL2	chr4:9796046-9796606	HepG2	liver:	n/a	n/a
13	JUND	chr4:9798435-9798611	HepG2	liver:	n/a	n/a
14	MAX	chr4:9802549-9802884	NB4	blood:	n/a	chr4:9802698-9802709 chr4:9802710-9802720 chr4:9802710-9802723 chr4:9802712-9802721 chr4:9802697-9802707 chr4:9802711-9802722 chr4:9802703-9802719
15	MXI1	chr4:9802602-9802819	GM12878	blood:	n/a	chr4:9802711-9802720 chr4:9802713-9802722
16	POLR2A	chr4:9784838-9784854	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:9800628-9800787	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:9794866-9795024	A549	lung:	n/a	n/a
19	POLR2A	chr4:9789894-9789905	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:9791824-9791957	K562	blood:	n/a	n/a
21	POLR2A	chr4:9787956-9788170	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:9801634-9801856	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:9802498-9802866	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:9797631-9797972	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:9786435-9786538	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr4:9796456-9796532	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:9786196-9786362	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:9792925-9793235	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:9792436-9792498	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:9788662-9788812	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:9789186-9789483	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:9790638-9790838	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr4:9798851-9798894	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:9799873-9800006	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:9787240-9787498	HepG2	liver:	n/a	n/a
36	RFX5	chr4:9802603-9802631	GM12878	blood:	n/a	n/a
37	RXRA	chr4:9793035-9793424	HepG2	liver:	n/a	n/a
38	SETDB1	chr4:9793154-9793472	U2OS	brain:	n/a	n/a
39	STAT3	chr4:9792575-9792887	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr4:9800257-9800457	MCF10A-Er-Src	breast:	n/a	n/a
41	USF1	chr4:9798434-9798586	HepG2	liver:	n/a	chr4:9798542-9798553
42	USF1	chr4:9786687-9786842	HepG2	liver:	n/a	n/a
43	USF2	chr4:9802552-9802886	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9787734-9787784	AG10803	skin:	n/a
2	chr4:9787734-9787784	PFSK-1	brain:	n/a
3	chr4:9787734-9787784	T-47D	breast:	n/a
4	chr4:9787734-9787784	NHDF-neo	bronchial:	n/a
5	chr4:9787734-9787784	CMK	blood:	n/a
6	chr4:9787734-9787784	ovcar-3	ovarian:	n/a
7	chr4:9787734-9787784	HEK293	kidney:	embryo
8	chr4:9787734-9787784	GM12892	blood:	n/a
9	chr4:9787734-9787784	HRCEpiC	kidney:	n/a
10	chr4:9787734-9787784	HCM	heart:	n/a
11	chr4:9787734-9787784	Caco-2	colon:	n/a
12	chr4:9787734-9787784	SKMC	muscle:	n/a
13	chr4:9787734-9787784	HRPEpiC	eye:	n/a
14	chr4:9787734-9787784	BJ	skin:	n/a
15	chr4:9787734-9787784	HCPEpiC	choroid plexus:	n/a
16	chr4:9787734-9787784	NB4	blood:	n/a
17	chr4:9787734-9787784	Hepatocyte	liver:	n/a
18	chr4:9787734-9787784	Hela-S3	cervix:	n/a
19	chr4:9787734-9787784	AG09319	gingival:	n/a
20	chr4:9787734-9787784	HRE	kidney:	n/a
21	chr4:9787734-9787784	A549	lung:	n/a
22	chr4:9787734-9787784	HepG2	liver:	n/a
23	chr4:9787734-9787784	HIPEpiC	eye:	n/a
24	chr4:9787734-9787784	RPTEC	kidney:	n/a
25	chr4:9787734-9787784	AG04450	lung:	fetal
26	chr4:9787734-9787784	GM12891	blood:	n/a
27	chr4:9787734-9787784	NT2-D1	testis:	n/a
28	chr4:9787734-9787784	HMEC	breast:	n/a
29	chr4:9787734-9787784	HEEpiC	esophagus:	n/a
30	chr4:9787734-9787784	MCF10A-Er-Src	breast:	n/a
31	chr4:9787734-9787784	HCT-116	colon:	n/a
32	chr4:9787734-9787784	PANC-1	pancreas:	n/a
33	chr4:9787734-9787784	NHBE	bronchial:	n/a
34	chr4:9787734-9787784	AoSMC	blood vessel:	n/a
35	chr4:9787734-9787784	HCF	heart:	n/a
36	chr4:9787734-9787784	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:9787734-9787784	PrEC	prostate:	n/a
38	chr4:9787734-9787784	IMR90	lung:	fetal
39	chr4:9787734-9787784	SAEC	small airway:	n/a
40	chr4:9787734-9787784	K562	blood:	n/a
41	chr4:9787734-9787784	GM06990	blood:	n/a
42	chr4:9787734-9787784	SK-N-SH_RA	brain:	n/a
43	chr4:9787734-9787784	ECC-1	luminal epithelium:	n/a
44	chr4:9787734-9787784	MCF-7	breast:	n/a
45	chr4:9787734-9787784	H1-hESC	embryonic stem cell:	embryo
46	chr4:9787734-9787784	AG04449	skin:	fetal
47	chr4:9787734-9787784	GM19239	blood:	n/a
48	chr4:9787734-9787784	Jurkat	blood:	n/a
49	chr4:9787734-9787784	U87	brain:	n/a
50	chr4:9787734-9787784	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
RNA5SP154	TF binding region
RNA5SP154	CpG island

Extended variants
information (count: 499 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376053096	chr4:9784854-9784855	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568876308	chr4:9784859-9784860	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370199592	chr4:9784872-9784873	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6281	chr4:9784889-9784890	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557760549	chr4:9784920-9784921	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201092734	chr4:9784937-9784938	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372758943	chr4:9784938-9784939	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150352708	chr4:9784966-9784967	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575474654	chr4:9784971-9784972	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533730716	chr4:9784976-9784977	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376052395	chr4:9784990-9784991	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567206059	chr4:9786800-9786801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200969960	chr4:9786861-9786862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201727608	chr4:9786864-9786865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184578168	chr4:9786865-9786866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549538388	chr4:9786879-9786880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140630738	chr4:9786892-9786893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187485754	chr4:9786898-9786899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76915675	chr4:9786899-9786900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150393914	chr4:9786917-9786918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566901340	chr4:9786955-9786956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375788831	chr4:9786958-9786959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113685863	chr4:9787012-9787013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534165911	chr4:9787022-9787023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191222867	chr4:9787037-9787038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142383780	chr4:9787040-9787041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184803549	chr4:9787100-9787101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189317376	chr4:9787104-9787105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556437192	chr4:9787114-9787115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578116496	chr4:9787126-9787127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545323836	chr4:9787189-9787190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146546936	chr4:9787290-9787291	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370414516	chr4:9787323-9787324	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs60502209	chr4:9787333-9787334	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149294346	chr4:9787389-9787390	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368434135	chr4:9787408-9787409	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs371721351	chr4:9787452-9787453	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531454998	chr4:9787460-9787461	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549673693	chr4:9787497-9787498	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565076147	chr4:9787505-9787506	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181665444	chr4:9787506-9787507	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185006790	chr4:9787559-9787560	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566942786	chr4:9787566-9787567	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs367991793	chr4:9787568-9787569	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534308546	chr4:9787576-9787577	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143566701	chr4:9787586-9787587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565885712	chr4:9787595-9787596	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375778790	chr4:9787604-9787605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189853738	chr4:9787641-9787642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77269347	chr4:9787659-9787660	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9784600-9785000	Enhancers	Pancreas	Pancrea
2	chr4:9784800-9785000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:9786800-9787000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:9786800-9787800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:9787000-9787600	Enhancers	Fetal Intestine Large	intestine
6	chr4:9787200-9787400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:9787400-9787600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:9787400-9787800	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:9793000-9794600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:9793200-9794400	Enhancers	HMEC	breast
11	chr4:9793800-9794400	Enhancers	NHEK	skin
12	chr4:9794200-9794600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr4:9794400-9798000	Weak transcription	HMEC	breast
14	chr4:9794600-9805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:9794600-9812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:9797200-9806400	Weak transcription	HepG2	liver
17	chr4:9798200-9799200	Enhancers	HMEC	breast
18	chr4:9798800-9815000	Weak transcription	Lung	lung
19	chr4:9799200-9802000	Weak transcription	Liver	Liver
20	chr4:9799200-9819600	Weak transcription	HMEC	breast
21	chr4:9802400-9803400	Enhancers	Thymus	Thymus
22	chr4:9802600-9803800	Enhancers	Fetal Thymus	thymus

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