Variant report

Variant	esv2762598
Chromosome Location	chr6:69103961-69124811
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	chr4:157762860..157763615-chr6:69116691..69117521,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 80 )

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	rs570887612	chr6:69118201-69118202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144236618	chr6:69118244-69118245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539414598	chr6:69118256-69118257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552938996	chr6:69118257-69118258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181920734	chr6:69118274-69118275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186092819	chr6:69118285-69118286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555422997	chr6:69118331-69118332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566167252	chr6:69118372-69118373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147788413	chr6:69118379-69118380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141250806	chr6:69118391-69118392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149918552	chr6:69118498-69118499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563406226	chr6:69118528-69118529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189181936	chr6:69118552-69118553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12190456	chr6:69118608-69118609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559706293	chr6:69118613-69118614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145004540	chr6:69118648-69118649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548857030	chr6:69118708-69118709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180888279	chr6:69118727-69118728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531109666	chr6:69118755-69118756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149095590	chr6:69118795-69118796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373278147	chr6:69118803-69118804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186514898	chr6:69118808-69118809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539532132	chr6:69118821-69118822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546421714	chr6:69118871-69118872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577217824	chr6:69118929-69118930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143183140	chr6:69118932-69118933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs118159946	chr6:69118936-69118937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115740078	chr6:69118937-69118938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574411373	chr6:69118941-69118942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574437186	chr6:69118955-69118956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557531232	chr6:69118970-69118971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191360570	chr6:69118995-69118996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546269064	chr6:69119044-69119045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117200678	chr6:69119055-69119056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75696775	chr6:69119060-69119061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117529666	chr6:69119069-69119070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140496562	chr6:69119082-69119083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531236899	chr6:69119148-69119149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145647726	chr6:69119238-69119239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564662761	chr6:69119289-69119290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533408156	chr6:69119380-69119381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546653458	chr6:69119446-69119447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183135134	chr6:69119494-69119495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566482593	chr6:69119498-69119499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186189272	chr6:69119522-69119523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545998225	chr6:69119534-69119535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535395836	chr6:69119538-69119539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190509662	chr6:69119546-69119547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9454509	chr6:69119557-69119558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201601122	chr6:69119582-69119583	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	21364760	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69118200-69118800	Enhancers	Fetal Brain Male	brain
2	chr6:69118800-69119200	Weak transcription	Fetal Brain Male	brain
3	chr6:69119200-69120000	Enhancers	Fetal Brain Male	brain
4	chr6:69120000-69120600	Weak transcription	Fetal Brain Male	brain
5	chr6:69120600-69120800	Enhancers	Fetal Brain Male	brain

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