Variant report

Variant	esv3472681
Chromosome Location	chr6:63597556-63599078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577317912	chr6:63597574-63597575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149411524	chr6:63597614-63597615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560056138	chr6:63597627-63597628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572268981	chr6:63597629-63597630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374456262	chr6:63597635-63597636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542877039	chr6:63597655-63597656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561000777	chr6:63597694-63597695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560380774	chr6:63597714-63597715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549989825	chr6:63597771-63597772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71570616	chr6:63597774-63597775	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10943276	chr6:63597779-63597780	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188939947	chr6:63597786-63597787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566824450	chr6:63597799-63597800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552482255	chr6:63597818-63597819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533918958	chr6:63597822-63597823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9352235	chr6:63597842-63597843	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531911587	chr6:63597868-63597869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567611659	chr6:63597896-63597897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35060416	chr6:63597929-63597930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538097494	chr6:63597941-63597942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556293629	chr6:63597984-63597985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370842224	chr6:63598018-63598019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144777229	chr6:63598046-63598047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192907164	chr6:63598063-63598064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113086722	chr6:63598083-63598084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553506620	chr6:63598109-63598110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73499372	chr6:63598145-63598146	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542241314	chr6:63598193-63598194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111235244	chr6:63598209-63598210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576399426	chr6:63598283-63598284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142972635	chr6:63598339-63598340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114443046	chr6:63598345-63598346	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12196643	chr6:63598357-63598358	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547854706	chr6:63598382-63598383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551879434	chr6:63598456-63598457	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189940891	chr6:63598499-63598500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112215490	chr6:63598502-63598503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375243880	chr6:63598504-63598505	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567625162	chr6:63598512-63598513	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181420773	chr6:63598527-63598528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566345165	chr6:63598543-63598544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146138445	chr6:63598545-63598546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184073389	chr6:63598551-63598552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140027605	chr6:63598557-63598558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188431205	chr6:63598592-63598593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180748491	chr6:63598620-63598621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534025946	chr6:63598623-63598624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572034478	chr6:63598667-63598668	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12201936	chr6:63598671-63598672	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554557129	chr6:63598692-63598693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	15273396	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63595200-63599200	Weak transcription	A549	lung
2	chr6:63596800-63597800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63597800-63598200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63598200-63603800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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