Variant report

Variant	esv3348402
Chromosome Location	chr4:7567478-7568008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7565125..7567674-chr4:7573256..7575494,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372417657	chr4:7567479-7567480	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536909390	chr4:7567482-7567483	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560972388	chr4:7567485-7567486	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573662927	chr4:7567494-7567495	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147751391	chr4:7567495-7567496	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145477009	chr4:7567529-7567530	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144755053	chr4:7567554-7567555	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201891323	chr4:7567559-7567560	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200283682	chr4:7567566-7567567	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs200180525	chr4:7567571-7567572	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201105986	chr4:7567574-7567575	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550076233	chr4:7567577-7567578	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs137914194	chr4:7567588-7567589	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs56792662	chr4:7567589-7567590	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539061875	chr4:7567590-7567591	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571477956	chr4:7567648-7567649	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7376278	chr4:7567672-7567673	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551415465	chr4:7567689-7567690	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566435726	chr4:7567690-7567691	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533936052	chr4:7567695-7567696	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs386671258	chr4:7567703-7567704	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374463908	chr4:7567704-7567705	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140375153	chr4:7567705-7567706	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368441738	chr4:7567706-7567707	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372813694	chr4:7567707-7567708	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200955296	chr4:7567709-7567710	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372388290	chr4:7567712-7567713	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199929000	chr4:7567719-7567720	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567306411	chr4:7567721-7567722	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62644748	chr4:7567722-7567723	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62644749	chr4:7567730-7567731	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201021139	chr4:7567736-7567737	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201846674	chr4:7567737-7567738	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147507211	chr4:7567739-7567740	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111066752	chr4:7567742-7567743	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs62644750	chr4:7567753-7567754	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs62644751	chr4:7567774-7567775	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538104635	chr4:7567775-7567776	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556522175	chr4:7567778-7567779	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs62644752	chr4:7567779-7567780	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62644753	chr4:7567782-7567783	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs62644754	chr4:7567784-7567785	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572425065	chr4:7567785-7567786	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs184707930	chr4:7567793-7567794	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543139026	chr4:7567800-7567801	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28703787	chr4:7567801-7567802	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531617568	chr4:7567805-7567806	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs151106211	chr4:7567806-7567807	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543660572	chr4:7567832-7567833	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201983019	chr4:7567833-7567834	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7566400-7573400	Weak transcription	Spleen	Spleen
2	chr4:7566600-7567600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7566600-7572000	Weak transcription	Brain Substantia Nigra	brain
4	chr4:7567000-7571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7567200-7568200	ZNF genes & repeats	Fetal Kidney	kidney
6	chr4:7567400-7567800	Active TSS	Fetal Brain Male	brain
7	chr4:7567400-7568000	Bivalent/Poised TSS	Fetal Lung	lung
8	chr4:7567600-7568200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:7567600-7568200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr4:7567800-7572200	Weak transcription	Fetal Brain Male	brain

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