Variant report

Variant	nsv886201
Chromosome Location	chr6:77016346-77097008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76830629..76833133-chr6:77061823..77064593,2	K562	blood:
2	chr6:76644344..76645305-chr6:77060589..77061466,9	MCF-7	breast:
3	chr5:126623922..126624446-chr6:77060801..77061533,2	MCF-7	breast:
4	chr6:76644536..76645309-chr6:77060811..77061358,2	MCF-7	breast:
5	chr6:76985163..76986079-chr6:77060919..77061636,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112706	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs181323618	chr6:77018005-77018006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149167256	chr6:77018007-77018008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369952873	chr6:77018021-77018022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61387313	chr6:77018049-77018050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578014521	chr6:77018056-77018057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539103788	chr6:77018065-77018066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372203755	chr6:77018085-77018086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142300162	chr6:77018131-77018132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575089549	chr6:77018133-77018134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs151253137	chr6:77018138-77018139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560803195	chr6:77018150-77018151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552093797	chr6:77018152-77018153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs9343405	chr6:77018159-77018160	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539813929	chr6:77018166-77018167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373387147	chr6:77018173-77018174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532135370	chr6:77018180-77018181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs185167535	chr6:77018181-77018182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117547422	chr6:77018188-77018189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574243093	chr6:77036024-77036025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536453937	chr6:77036055-77036056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35540577	chr6:77036157-77036158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557509808	chr6:77036159-77036160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191362977	chr6:77036160-77036161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182146876	chr6:77036163-77036164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187961048	chr6:77036164-77036165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192541632	chr6:77036261-77036262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184931046	chr6:77036266-77036267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375129824	chr6:77036267-77036268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189957200	chr6:77036274-77036275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192298441	chr6:77036278-77036279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544111512	chr6:77036305-77036306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562661104	chr6:77036339-77036340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530066154	chr6:77036343-77036344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141116693	chr6:77036345-77036346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368765080	chr6:77036384-77036385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560203430	chr6:77036411-77036412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527246902	chr6:77036442-77036443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567802611	chr6:77036493-77036494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75957882	chr6:77036497-77036498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144853324	chr6:77036541-77036542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184632219	chr6:77036560-77036561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372192364	chr6:77036571-77036572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550934687	chr6:77036615-77036616	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2504986	chr6:77036639-77036640	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536556612	chr6:77036675-77036676	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145573238	chr6:77036682-77036683	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs572920601	chr6:77036688-77036689	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189183130	chr6:77036707-77036708	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368980040	chr6:77036708-77036709	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558894418	chr6:77036716-77036717	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77018000-77018200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:77036000-77037000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:77036200-77037000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:77036200-77037400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:77036400-77036600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:77036600-77037000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:77052200-77052600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:77088800-77089200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:77089000-77089400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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