Variant report

Variant	esv3584851
Chromosome Location	chr6:81277985-81289534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185845635	chr6:81283203-81283204	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61513139	chr6:81283214-81283215	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200425553	chr6:81283215-81283216	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577032400	chr6:81283216-81283217	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28811869	chr6:81283234-81283235	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556092578	chr6:81283237-81283238	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576226441	chr6:81283276-81283277	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541754383	chr6:81283279-81283280	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562042380	chr6:81283285-81283286	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530020607	chr6:81283289-81283290	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540253981	chr6:81283292-81283293	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191095474	chr6:81283293-81283294	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531717834	chr6:81283298-81283299	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9449077	chr6:81283299-81283300	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552681266	chr6:81283300-81283301	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9449078	chr6:81283302-81283303	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149161938	chr6:81283308-81283309	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183679952	chr6:81283310-81283311	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568754680	chr6:81283311-81283312	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187389760	chr6:81283322-81283323	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386703099	chr6:81283332-81283333	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4315973	chr6:81283334-81283335	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539529197	chr6:81283338-81283339	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190614434	chr6:81283352-81283353	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576134543	chr6:81283368-81283369	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4527663	chr6:81283369-81283370	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113222315	chr6:81283377-81283378	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183167245	chr6:81283378-81283379	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540193800	chr6:81283380-81283381	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4315974	chr6:81283392-81283393	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7754809	chr6:81283404-81283405	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28789711	chr6:81283405-81283406	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563031880	chr6:81283406-81283407	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556532927	chr6:81283411-81283412	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376165538	chr6:81283412-81283413	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562325167	chr6:81283475-81283476	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9449079	chr6:81283479-81283480	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548151288	chr6:81283482-81283483	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149478557	chr6:81283495-81283496	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539448706	chr6:81283497-81283498	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187105613	chr6:81283503-81283504	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569748932	chr6:81283510-81283511	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535248183	chr6:81283523-81283524	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555546432	chr6:81283545-81283546	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571949482	chr6:81283561-81283562	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534599625	chr6:81283562-81283563	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9449080	chr6:81283591-81283592	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576808256	chr6:81283592-81283593	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568587327	chr6:81283595-81283596	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201892084	chr6:81283596-81283597	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81283200-81283600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr6:81283200-81283600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:81283200-81283800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:81287600-81287800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:81287800-81288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:81287800-81288800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:81288200-81288400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:81288400-81289400	Enhancers	HSMM	muscle
9	chr6:81288800-81289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:81288800-81289200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:81288800-81289200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:81288800-81289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:81288800-81289200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:81288800-81289200	Enhancers	Adipose Nuclei	Adipose

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