Variant report

Variant	esv3438270
Chromosome Location	chr6:143297059-143301357
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	chr6:143292684..143294337-chr6:143295004..143298111,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542225745	chr6:143297077-143297078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557035607	chr6:143297117-143297118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575715381	chr6:143297130-143297131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371263346	chr6:143297164-143297165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559615495	chr6:143297190-143297191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528688726	chr6:143297225-143297226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564710813	chr6:143297298-143297299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199606041	chr6:143297323-143297324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540554563	chr6:143297333-143297334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562029165	chr6:143297351-143297352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140919537	chr6:143297392-143297393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367743756	chr6:143297407-143297408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542000377	chr6:143297410-143297411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181522964	chr6:143297417-143297418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6939141	chr6:143297507-143297508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568715516	chr6:143297569-143297570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150102843	chr6:143297572-143297573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551180622	chr6:143297581-143297582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566721854	chr6:143297607-143297608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187150746	chr6:143297638-143297639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549330119	chr6:143297652-143297653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6920570	chr6:143297660-143297661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138272313	chr6:143297670-143297671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557327331	chr6:143297682-143297683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549563388	chr6:143297711-143297712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149626558	chr6:143297712-143297713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12201873	chr6:143297745-143297746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144332741	chr6:143297746-143297747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557966048	chr6:143297751-143297752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191136240	chr6:143297784-143297785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35690614	chr6:143297801-143297802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183299445	chr6:143297846-143297847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561918137	chr6:143297876-143297877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185762550	chr6:143297975-143297976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560632120	chr6:143297976-143297977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562546282	chr6:143297983-143297984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532789933	chr6:143298003-143298004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546239658	chr6:143298036-143298037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551480724	chr6:143298053-143298054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74574606	chr6:143298056-143298057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148385245	chr6:143298064-143298065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537952241	chr6:143298094-143298095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377693457	chr6:143298199-143298200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372265977	chr6:143298200-143298201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549219463	chr6:143298203-143298204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567422352	chr6:143298215-143298216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189794082	chr6:143298239-143298240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183112957	chr6:143298289-143298290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143292334	chr6:143298292-143298293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539435643	chr6:143298306-143298307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143281600-143298600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143296000-143297200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:143296000-143297600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:143299600-143300000	Enhancers	HUES6 Cell Line	embryonic stem cell

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