Variant report

Variant	esv3410087
Chromosome Location	chr6:68289780-68313647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:68310865..68312507-chr6:68587249..68589737,2	K562	blood:
2	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
3	chr6:68311734..68314302-chr6:68583935..68586240,2	K562	blood:
4	chr6:68292892..68295431-chr6:68738448..68740413,2	K562	blood:
5	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
6	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
7	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554862761	chr6:68312208-68312209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544780874	chr6:68312252-68312253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572643229	chr6:68312399-68312400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs988020	chr6:68312507-68312508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189678974	chr6:68312696-68312697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574396935	chr6:68312728-68312729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144393323	chr6:68312740-68312741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183305828	chr6:68312747-68312748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2747155	chr6:68312767-68312768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12055646	chr6:68312778-68312779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546015868	chr6:68312797-68312798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187794542	chr6:68312804-68312805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115197328	chr6:68312819-68312820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528358390	chr6:68312832-68312833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560275184	chr6:68312868-68312869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148366277	chr6:68312886-68312887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530120058	chr6:68312887-68312888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141530094	chr6:68312951-68312952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115239759	chr6:68312978-68312979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532512024	chr6:68312994-68312995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150870315	chr6:68313019-68313020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80265202	chr6:68313024-68313025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534979869	chr6:68313048-68313049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555260482	chr6:68313093-68313094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567923035	chr6:68313101-68313102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372039864	chr6:68313154-68313155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557042523	chr6:68313160-68313161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577001423	chr6:68313170-68313171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540567759	chr6:68313188-68313189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552868266	chr6:68313248-68313249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375297355	chr6:68313252-68313253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573013886	chr6:68313258-68313259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191962758	chr6:68313273-68313274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183295371	chr6:68313289-68313290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562023566	chr6:68313291-68313292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552981790	chr6:68313318-68313319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113347014	chr6:68313321-68313322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530764236	chr6:68313330-68313331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543405311	chr6:68313379-68313380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188590181	chr6:68313388-68313389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532449586	chr6:68313405-68313406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371688192	chr6:68313406-68313407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192597181	chr6:68313423-68313424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184892150	chr6:68313424-68313425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566106315	chr6:68313446-68313447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186833578	chr6:68313455-68313456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528695192	chr6:68313458-68313459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548551869	chr6:68313495-68313496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9351669	chr6:68313524-68313525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537780870	chr6:68313543-68313544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68312200-68313000	Enhancers	Fetal Lung	lung
2	chr6:68313000-68317200	Weak transcription	Fetal Lung	lung
3	chr6:68313400-68313600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:68313600-68316400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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