Variant report

Variant	nsv981162
Chromosome Location	chr6:86791554-86815413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:86796660-86796687	GM20000	blood:	n/a	n/a
2	CTCF	chr6:86805110-86805147	Pancreas_OC	pancreas:	n/a	n/a
3	E2F4	chr6:86795459-86795588	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr6:86800450-86800621	SH-SY5Y	brain:	n/a	n/a
5	MAFF	chr6:86813861-86814014	HepG2	liver:	n/a	chr6:86813941-86813959
6	MAFF	chr6:86797884-86797911	HepG2	liver:	n/a	n/a
7	MAFK	chr6:86813861-86814070	HepG2	liver:	n/a	chr6:86813942-86813957
8	MAFK	chr6:86813809-86814116	HepG2	liver:	n/a	chr6:86813942-86813957
9	POLR2A	chr6:86808190-86808192	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:86791858-86791985	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr6:86813813-86814336	MCF-7	breast:	n/a	n/a
12	YY1	chr6:86804131-86804380	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3371371..3371930-chr6:86798182..86798788,2	MCF-7	breast:

Variant related genes	Relation type
RPL7P27	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369873562	chr6:86800463-86800464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115293710	chr6:86800474-86800475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377416187	chr6:86800483-86800484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571309578	chr6:86800499-86800500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556750959	chr6:86800513-86800514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547376347	chr6:86800520-86800521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376106849	chr6:86800573-86800574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs542581004	chr6:86800574-86800575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535932356	chr6:86800592-86800593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs555180932	chr6:86800621-86800622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531666832	chr6:86804218-86804219	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550376835	chr6:86804230-86804231	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568696447	chr6:86804264-86804265	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188157931	chr6:86804278-86804279	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551644169	chr6:86804283-86804284	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181169674	chr6:86804290-86804291	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533784153	chr6:86804291-86804292	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555033034	chr6:86804325-86804326	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116370466	chr6:86804337-86804338	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112092154	chr6:86804338-86804339	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537921178	chr6:86804363-86804364	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556820543	chr6:86804378-86804379	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528308654	chr6:86804389-86804390	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75911737	chr6:86804392-86804393	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530961370	chr6:86804396-86804397	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564515225	chr6:86804431-86804432	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112258214	chr6:86804460-86804461	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148820170	chr6:86804467-86804468	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554460283	chr6:86804479-86804480	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113460201	chr6:86804493-86804494	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543030698	chr6:86804598-86804599	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561093645	chr6:86804601-86804602	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531726598	chr6:86804623-86804624	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs142998003	chr6:86804630-86804631	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562382763	chr6:86804637-86804638	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186615596	chr6:86804662-86804663	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551239298	chr6:86804726-86804727	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs7741914	chr6:86804775-86804776	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs550327812	chr6:86804796-86804797	Enhancers ZNF genes & repeats	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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86804200-86804800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:86804200-86804800	ZNF genes & repeats	Aorta	Aorta

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