Variant report

Variant	esv3330445
Chromosome Location	chr6:141223559-141226657
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	chr6:141225214..141229759-chr6:141230098..141233300,4	K562	blood:
2	chr6:141218727..141221164-chr6:141224854..141227033,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375023892	chr6:141223582-141223583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569737839	chr6:141223599-141223600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563716369	chr6:141223626-141223627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552500155	chr6:141223681-141223682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570802097	chr6:141223790-141223791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534926034	chr6:141223807-141223808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552958790	chr6:141223815-141223816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568086620	chr6:141223816-141223817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147445538	chr6:141223832-141223833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181144793	chr6:141223835-141223836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6929272	chr6:141223864-141223865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557047008	chr6:141223867-141223868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538834365	chr6:141223874-141223875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575745809	chr6:141223998-141223999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529305044	chr6:141224006-141224007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201551964	chr6:141224031-141224032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185983866	chr6:141224036-141224037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540544560	chr6:141224037-141224038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148133715	chr6:141224058-141224059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370709351	chr6:141224083-141224084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574145027	chr6:141224086-141224087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561710541	chr6:141224133-141224134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574015460	chr6:141224219-141224220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189029790	chr6:141224277-141224278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549337859	chr6:141224283-141224284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530611605	chr6:141224333-141224334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552360471	chr6:141224363-141224364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374526787	chr6:141224364-141224365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535867549	chr6:141224393-141224394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142826298	chr6:141224436-141224437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115785139	chr6:141224446-141224447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113423915	chr6:141224457-141224458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113021745	chr6:141224481-141224482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542973966	chr6:141224508-141224509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371128836	chr6:141224511-141224512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567941069	chr6:141224522-141224523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368270861	chr6:141224546-141224547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151056859	chr6:141224666-141224667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568893707	chr6:141224699-141224700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139823861	chr6:141224714-141224715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557900428	chr6:141224746-141224747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143363281	chr6:141224813-141224814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572624962	chr6:141224938-141224939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545314345	chr6:141224944-141224945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534204257	chr6:141225041-141225042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555670150	chr6:141225049-141225050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368012062	chr6:141225085-141225086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544637864	chr6:141225152-141225153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375949563	chr6:141225172-141225173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545883981	chr6:141225188-141225189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141220200-141230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:141222600-141228400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:141222600-141228400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:141222800-141228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:141223000-141228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:141226600-141227600	Enhancers	Osteobl	bone

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