Variant report

Variant	nsv966278
Chromosome Location	chr4:69842661-69851842
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	CTCF	chr4:69850888-69850921	Medullo	brain:	n/a	n/a
2	CTCF	chr4:69844807-69844877	Lung_OC	lung:	n/a	n/a
3	CTCF	chr4:69850774-69850939	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr4:69850780-69850930	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr4:69851825-69851852	GM20000	blood:	n/a	n/a
6	KAP1	chr4:69851561-69851758	K562	blood:	n/a	n/a
7	POLR2A	chr4:69849533-69849585	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:69845137-69845395	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr4:69846962-69847162	MCF10A-Er-Src	breast:	n/a	n/a
10	RAD21	chr4:69850685-69851029	Hela-S3	cervix:	n/a	n/a
11	SMC3	chr4:69850745-69851022	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000251498	TF binding region

Extended variants
information (count: 273 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555502013	chr4:69842680-69842681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574171101	chr4:69842718-69842719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2013866	chr4:69842746-69842747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554723895	chr4:69842769-69842770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574656025	chr4:69842815-69842816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181641634	chr4:69842819-69842820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563780328	chr4:69842820-69842821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201993532	chr4:69842825-69842826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367573826	chr4:69842830-69842831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186158851	chr4:69842848-69842849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545870190	chr4:69842866-69842867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559936307	chr4:69842886-69842887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538855303	chr4:69842960-69842961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113514463	chr4:69842980-69842981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116669168	chr4:69842981-69842982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548440170	chr4:69843015-69843016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146446565	chr4:69843029-69843030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140846290	chr4:69843042-69843043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143020865	chr4:69843048-69843049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148274685	chr4:69843062-69843063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539465627	chr4:69843089-69843090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552529749	chr4:69843114-69843115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538142996	chr4:69843138-69843139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140356017	chr4:69843142-69843143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113262084	chr4:69843147-69843148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6851405	chr4:69843154-69843155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564370071	chr4:69843229-69843230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574978501	chr4:69843238-69843239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181941228	chr4:69843250-69843251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574697862	chr4:69843260-69843261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540399829	chr4:69843269-69843270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577467347	chr4:69843276-69843277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150356550	chr4:69843278-69843279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138082326	chr4:69843298-69843299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143614307	chr4:69843334-69843335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542366477	chr4:69843358-69843359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185799184	chr4:69843406-69843407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530773011	chr4:69843463-69843464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550498191	chr4:69843479-69843480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564432374	chr4:69843480-69843481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533062217	chr4:69843486-69843487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147638850	chr4:69843498-69843499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577301348	chr4:69843537-69843538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200602868	chr4:69843594-69843595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74956130	chr4:69843650-69843651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541940913	chr4:69843661-69843662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368337220	chr4:69843662-69843663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201090203	chr4:69843663-69843664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545978423	chr4:69843710-69843711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147280304	chr4:69843736-69843737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69842400-69842800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:69842600-69846600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:69844800-69845200	Enhancers	Stomach Mucosa	stomach
4	chr4:69850200-69851600	Enhancers	Liver	Liver

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