Variant report

Variant	nsv967757
Chromosome Location	chr4:69780530-69790564
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	chr4:69789566-69789588	HepG2	liver:	n/a	n/a
2	CTCF	chr4:69789543-69789599	MCF-7	breast:	n/a	chr4:69789557-69789578
3	CTCF	chr4:69789480-69789630	RPTEC	kidney:	n/a	chr4:69789557-69789578
4	CTCF	chr4:69789592-69789615	HepG2	liver:	n/a	n/a
5	CTCF	chr4:69789520-69789670	HepG2	liver:	n/a	chr4:69789557-69789578
6	CTCF	chr4:69789400-69789550	MCF-7	breast:	n/a	n/a
7	CTCF	chr4:69789500-69789650	MCF-7	breast:	n/a	chr4:69789557-69789578
8	CTCF	chr4:69789524-69789653	MCF-7	breast:	n/a	chr4:69789557-69789578
9	CTCF	chr4:69789470-69789606	HepG2	liver:	n/a	chr4:69789557-69789578
10	CTCF	chr4:69789516-69789603	GM10248	blood:	n/a	chr4:69789557-69789578
11	CUX1	chr4:69784381-69784497	GM12878	blood:	n/a	n/a
12	E2F4	chr4:69781531-69781558	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr4:69785247-69785351	GM12878	blood:	n/a	n/a
14	FOS	chr4:69786407-69786607	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:69785303-69785517	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:69785263-69785479	MCF10A-Er-Src	breast:	n/a	n/a
17	MAFK	chr4:69789281-69789556	HepG2	liver:	n/a	chr4:69789427-69789442 chr4:69789431-69789442 chr4:69789431-69789442 chr4:69789430-69789444 chr4:69789427-69789443
18	MAFK	chr4:69789303-69789505	HepG2	liver:	n/a	chr4:69789427-69789442 chr4:69789431-69789442 chr4:69789431-69789442 chr4:69789430-69789444 chr4:69789427-69789443
19	MAFK	chr4:69789401-69789467	IMR90	lung:	n/a	chr4:69789427-69789442 chr4:69789431-69789442 chr4:69789431-69789442 chr4:69789430-69789444 chr4:69789427-69789443
20	POLR2A	chr4:69781846-69781896	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:69789835-69789900	MCF-7	breast:	n/a	n/a
22	POLR2A	chr4:69783747-69783914	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:69786891-69786958	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr4:69782858-69782967	MCF-7	breast:	n/a	n/a
25	RAD21	chr4:69789419-69789802	MCF-7	breast:	n/a	n/a
26	RAD21	chr4:69789425-69789679	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr4:69789428-69789777	MCF-7	breast:	n/a	n/a
28	RAD21	chr4:69789463-69789726	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr4:69789322-69789748	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr4:69789406-69789782	HepG2	liver:	n/a	n/a
31	RAD21	chr4:69789402-69789660	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69778943..69780754-chr4:69782695..69784707,2	MCF-7	breast:
2	chr4:69778943..69780754-chr4:69782695..69784707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198277	TF binding region

Extended variants
information (count: 254 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:254 , 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	rs10000974	chr4:69781227-69781228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377674313	chr4:69781249-69781250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370910060	chr4:69781301-69781302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144045505	chr4:69781302-69781303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188142666	chr4:69781307-69781308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10001065	chr4:69781318-69781319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs193079463	chr4:69781355-69781356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543882052	chr4:69781362-69781363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559142148	chr4:69781377-69781378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184643811	chr4:69781417-69781418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541730572	chr4:69781418-69781419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147297259	chr4:69781492-69781493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530573409	chr4:69781563-69781564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550295833	chr4:69781569-69781570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10032748	chr4:69781574-69781575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532908431	chr4:69781596-69781597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189168607	chr4:69781636-69781637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181825388	chr4:69781706-69781707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566286909	chr4:69781757-69781758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575723299	chr4:69781759-69781760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529631108	chr4:69781819-69781820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535183046	chr4:69781878-69781879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546918140	chr4:69781913-69781914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568652125	chr4:69781925-69781926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537488339	chr4:69782031-69782032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376879743	chr4:69782032-69782033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577138822	chr4:69782043-69782044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539559547	chr4:69782063-69782064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553006662	chr4:69782066-69782067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7672933	chr4:69782124-69782125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532341983	chr4:69782154-69782155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541621077	chr4:69782160-69782161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561687848	chr4:69782174-69782175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552048808	chr4:69782194-69782195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575432005	chr4:69782213-69782214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184959028	chr4:69782214-69782215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373558673	chr4:69782221-69782222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367694748	chr4:69782269-69782270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532900912	chr4:69782299-69782300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370576052	chr4:69782330-69782331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188109362	chr4:69782395-69782396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181051685	chr4:69782399-69782400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9999996	chr4:69782467-69782468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10004381	chr4:69782486-69782487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371848799	chr4:69782540-69782541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186467805	chr4:69782555-69782556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114140853	chr4:69782615-69782616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376603050	chr4:69782639-69782640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568765058	chr4:69782651-69782652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1458238	chr4:69782665-69782666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69781200-69786400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:69789600-69789800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:69789800-69790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:69790000-69790600	Enhancers	HepG2	liver
5	chr4:69790400-69790600	Enhancers	HUES48 Cell Line	embryonic stem cell

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