Variant report

Variant	esv3387726
Chromosome Location	chr6:65712231-65717029
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	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
2	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
3	CEBPB	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
4	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
5	CTCF	chr6:65714280-65714430	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr6:65714320-65714470	HepG2	liver:	n/a	n/a
7	CTCF	chr6:65714320-65714470	HEK293	kidney:	n/a	n/a
8	MAFK	chr6:65712125-65712461	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000256352	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs761834	chr6:65712263-65712264	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564140832	chr6:65712273-65712274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141471262	chr6:65712278-65712279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560926810	chr6:65712299-65712300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9363316	chr6:65712300-65712301	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs67276433	chr6:65712326-65712327	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2144713	chr6:65712361-65712362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148602293	chr6:65712381-65712382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560519948	chr6:65712435-65712436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548606077	chr6:65712447-65712448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548970925	chr6:65712508-65712509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189608099	chr6:65712518-65712519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537967226	chr6:65712548-65712549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9354200	chr6:65712566-65712567	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570792665	chr6:65712622-65712623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540104601	chr6:65712623-65712624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554208271	chr6:65712632-65712633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144472146	chr6:65712635-65712636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147856594	chr6:65712724-65712725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569787957	chr6:65712740-65712741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571035318	chr6:65712797-65712798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9363317	chr6:65712800-65712801	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34309150	chr6:65712813-65712814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368082601	chr6:65712824-65712825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575375544	chr6:65712826-65712827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543993069	chr6:65712842-65712843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370340817	chr6:65712849-65712850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564283241	chr6:65712862-65712863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371897955	chr6:65712872-65712873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376427015	chr6:65712962-65712963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369686638	chr6:65712969-65712970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116534947	chr6:65712999-65713000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375550827	chr6:65713001-65713002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529162166	chr6:65713007-65713008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548934009	chr6:65713008-65713009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550181715	chr6:65713009-65713010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181210778	chr6:65713153-65713154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536499692	chr6:65713154-65713155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9351478	chr6:65713161-65713162	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372576697	chr6:65713220-65713221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572991637	chr6:65713235-65713236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547972452	chr6:65713236-65713237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567916850	chr6:65713248-65713249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536960745	chr6:65713251-65713252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184990624	chr6:65713267-65713268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555642935	chr6:65713275-65713276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575338028	chr6:65713277-65713278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537927720	chr6:65713279-65713280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573777881	chr6:65713280-65713281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9354201	chr6:65713309-65713310	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65707000-65716000	Weak transcription	Pancreas	Pancrea
2	chr6:65712000-65715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65716000-65716200	Enhancers	Pancreas	Pancrea
4	chr6:65716400-65716800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:65716400-65717000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:65716600-65717000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:65716600-65717000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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