Variant report

Variant	nsv521812
Chromosome Location	chr4:69703527-69715945
allele	n/a
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	CBX3	chr4:69710563-69710928	K562	blood:	n/a	n/a
2	CEBPB	chr4:69712445-69712703	HepG2	liver:	n/a	chr4:69712549-69712560
3	CTCF	chr4:69713220-69713370	GM12872	blood:	n/a	n/a
4	EP300	chr4:69705426-69705448	K562	blood:	n/a	n/a
5	IRF3	chr4:69714265-69714279	GM12878	blood:	n/a	n/a
6	KAP1	chr4:69708270-69708645	HEK293	kidney:	n/a	n/a
7	KAP1	chr4:69710173-69710979	K562	blood:	n/a	n/a
8	MAFF	chr4:69706462-69706620	HepG2	liver:	n/a	chr4:69706555-69706573
9	MAFK	chr4:69706417-69706627	HepG2	liver:	n/a	n/a
10	MAFK	chr4:69706409-69706688	HepG2	liver:	n/a	n/a
11	MAFK	chr4:69708910-69709068	HepG2	liver:	n/a	chr4:69709009-69709024
12	MAFK	chr4:69708940-69709017	HepG2	liver:	n/a	n/a
13	MAFK	chr4:69706523-69706605	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr4:69706509-69706598	IMR90	lung:	n/a	n/a
15	MAX	chr4:69705870-69705893	GM12878	blood:	n/a	n/a
16	MXI1	chr4:69714500-69714509	K562	blood:	n/a	n/a
17	MYC	chr4:69705637-69705731	MCF10A-Er-Src	breast:	n/a	n/a
18	NFYB	chr4:69708626-69708946	K562	blood:	n/a	n/a
19	POLR2A	chr4:69704663-69704723	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:69707049-69707183	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:69705684-69705829	MCF10A-Er-Src	breast:	n/a	n/a
22	RFX5	chr4:69712686-69712729	HepG2	liver:	n/a	n/a
23	SETDB1	chr4:69708274-69708779	U2OS	brain:	n/a	n/a
24	SETDB1	chr4:69710355-69710974	U2OS	brain:	n/a	n/a
25	STAT3	chr4:69704521-69704522	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr4:69705905-69706003	MCF10A-Er-Src	breast:	n/a	n/a
27	ZNF143	chr4:69710713-69710866	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr4:69708356-69708612	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000251424	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539245850	chr4:69704684-69704685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115117502	chr4:69704685-69704686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563320959	chr4:69704708-69704709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191964622	chr4:69708207-69708208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs527506343	chr4:69708232-69708233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184568400	chr4:69708257-69708258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567471271	chr4:69708311-69708312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529905356	chr4:69708313-69708314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571649921	chr4:69708320-69708321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549650893	chr4:69708330-69708331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201011408	chr4:69708331-69708332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112061398	chr4:69708347-69708348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538236814	chr4:69708368-69708369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116491355	chr4:69708372-69708373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565721993	chr4:69708374-69708375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534148617	chr4:69708383-69708384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76366382	chr4:69708384-69708385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574266494	chr4:69708385-69708386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141540901	chr4:69708409-69708410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556894063	chr4:69708420-69708421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9996074	chr4:69708443-69708444	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114764761	chr4:69708454-69708455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550524121	chr4:69708514-69708515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189333184	chr4:69708518-69708519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540884706	chr4:69708522-69708523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560783322	chr4:69708535-69708536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529818679	chr4:69708553-69708554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549704126	chr4:69708565-69708566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563200777	chr4:69708573-69708574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76969860	chr4:69708574-69708575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112237826	chr4:69708589-69708590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552119347	chr4:69708590-69708591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536520747	chr4:69708621-69708622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79724758	chr4:69708624-69708625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs573954770	chr4:69708626-69708627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534747755	chr4:69708638-69708639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138556159	chr4:69708653-69708654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141624496	chr4:69708654-69708655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs13135457	chr4:69708688-69708689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553307436	chr4:69708695-69708696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs60196304	chr4:69708717-69708718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs1841043	chr4:69708718-69708719	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182212165	chr4:69708757-69708758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576766203	chr4:69708776-69708777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs187591707	chr4:69708803-69708804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565753470	chr4:69708880-69708881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572333986	chr4:69708888-69708889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189116985	chr4:69708920-69708921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561036050	chr4:69708936-69708937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146185532	chr4:69708945-69708946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69708200-69708600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr4:69708400-69711200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr4:69710000-69710400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69710400-69710600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:69710400-69711600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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