Variant report

Variant	nsv1028488
Chromosome Location	chr6:67769601-67803508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:67779443..67782411-chr6:67785393..67788162,4	K562	blood:
2	chr6:67776186..67778175-chr6:67786497..67788108,2	K562	blood:
3	chr6:67774843..67776777-chr6:69022561..69024613,2	MCF-7	breast:
4	chr6:67767080..67769379-chr6:67772486..67774394,2	K562	blood:
5	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
6	chr6:67779443..67782411-chr6:67785393..67788162,4	K562	blood:
7	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
8	chr6:67778065..67781225-chr6:67782008..67784983,4	K562	blood:
9	chr6:67796143..67796843-chr6:68573181..68573682,2	MCF-7	breast:
10	chr6:67782061..67786173-chr6:67786217..67792802,8	K562	blood:
11	chr6:67778065..67781225-chr6:67782008..67784983,4	K562	blood:
12	chr6:67782061..67786173-chr6:67786217..67792802,8	K562	blood:
13	chr6:67776186..67778175-chr6:67786497..67788108,2	K562	blood:
14	chr6:67783004..67786159-chr6:67787646..67791458,3	K562	blood:
15	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:
16	chr6:67783004..67786159-chr6:67787646..67791458,3	K562	blood:
17	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:

No data

Extended variants
information (count: 237 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2502286	chr6:67769601-67769602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368139112	chr6:67769604-67769605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560842542	chr6:67769629-67769630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529747554	chr6:67769639-67769640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187238355	chr6:67769641-67769642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145295849	chr6:67769702-67769703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532692410	chr6:67769712-67769713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190088935	chr6:67769717-67769718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183051906	chr6:67769736-67769737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187674647	chr6:67769738-67769739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371948702	chr6:67769754-67769755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548305551	chr6:67769765-67769766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187310628	chr6:67772406-67772407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192156490	chr6:67772438-67772439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368018522	chr6:67772439-67772440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs13203029	chr6:67772449-67772450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563992765	chr6:67772476-67772477	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs180915033	chr6:67772477-67772478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550838719	chr6:67772504-67772505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74536693	chr6:67772505-67772506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543249043	chr6:67772509-67772510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535123397	chr6:67772510-67772511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147646247	chr6:67772515-67772516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549216223	chr6:67772563-67772564	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567626559	chr6:67772573-67772574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569215325	chr6:67772600-67772601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550489458	chr6:67772625-67772626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538019888	chr6:67772636-67772637	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558352079	chr6:67772681-67772682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs578130014	chr6:67772717-67772718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534285090	chr6:67772739-67772740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140583852	chr6:67772767-67772768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112506061	chr6:67772772-67772773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185131233	chr6:67772797-67772798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543047903	chr6:67772798-67772799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561924870	chr6:67772800-67772801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563313653	chr6:67772802-67772803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12661912	chr6:67772836-67772837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs115023483	chr6:67772838-67772839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144414617	chr6:67772846-67772847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540602059	chr6:67772862-67772863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs72885728	chr6:67772886-67772887	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189836885	chr6:67772901-67772902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182818434	chr6:67772938-67772939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6455213	chr6:67772946-67772947	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148860515	chr6:67772955-67772956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544683205	chr6:67772972-67772973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188200585	chr6:67772976-67772977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191700287	chr6:67773051-67773052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143495498	chr6:67773090-67773091	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67769400-67769800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:67772400-67775200	Active TSS	K562	blood
3	chr6:67778400-67779800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:67786400-67786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:67789800-67790200	Enhancers	Liver	Liver

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