Variant report

Variant	esv3378943
Chromosome Location	chr6:67957731-67961729
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	chr6:67957680..67959538-chr6:67961788..67963871,2	K562	blood:
2	chr6:67961598..67964297-chr6:68597509..68599037,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564263265	chr6:67957736-67957737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1458793	chr6:67957843-67957844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539982491	chr6:67957865-67957866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559804364	chr6:67957888-67957889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372770950	chr6:67957948-67957949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377237861	chr6:67958017-67958018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9360282	chr6:67958053-67958054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368981398	chr6:67958078-67958079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528890267	chr6:67958128-67958129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148209299	chr6:67958142-67958143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563060619	chr6:67958165-67958166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9354576	chr6:67958171-67958172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557402998	chr6:67958175-67958176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571916380	chr6:67958182-67958183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534384142	chr6:67958187-67958188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9354577	chr6:67958214-67958215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192757618	chr6:67958240-67958241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9345996	chr6:67958291-67958292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9363731	chr6:67958311-67958312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575456533	chr6:67958315-67958316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371410558	chr6:67958347-67958348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368612990	chr6:67958348-67958349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534907406	chr6:67958384-67958385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538095604	chr6:67958386-67958387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557762343	chr6:67958394-67958395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150296393	chr6:67958395-67958396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577169178	chr6:67958396-67958397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559843368	chr6:67958416-67958417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573372574	chr6:67958472-67958473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544614308	chr6:67958483-67958484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556604361	chr6:67958531-67958532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139380800	chr6:67958559-67958560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562458726	chr6:67958596-67958597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182437745	chr6:67958600-67958601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531206463	chr6:67958607-67958608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17445359	chr6:67958644-67958645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574288346	chr6:67958697-67958698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542340718	chr6:67958702-67958703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34350525	chr6:67958719-67958720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs207467112	chr6:67958727-67958728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187438392	chr6:67958803-67958804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530171485	chr6:67958825-67958826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573400106	chr6:67958890-67958891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549907682	chr6:67958936-67958937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570078458	chr6:67958937-67958938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191928064	chr6:67959001-67959002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76473758	chr6:67959005-67959006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184730568	chr6:67959060-67959061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571185997	chr6:67959078-67959079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59126547	chr6:67959117-67959118	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
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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67957000-67959000	Enhancers	Dnd41	blood
2	chr6:67958000-67958400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:67959000-67962000	Weak transcription	Dnd41	blood

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