Variant report

Variant	nsv603478
Chromosome Location	chr6:66656060-66676938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:66666961..66669216-chr6:66669694..66671348,2	MCF-7	breast:
2	chr6:66666961..66669216-chr6:66669694..66671348,2	MCF-7	breast:

Extended variants
information (count: 356 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1903407	chr6:66656060-66656061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547676408	chr6:66656062-66656063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567818115	chr6:66656070-66656071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528996748	chr6:66656071-66656072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548704133	chr6:66656085-66656086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1903406	chr6:66656097-66656098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537494828	chr6:66656103-66656104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76236279	chr6:66656113-66656114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200710784	chr6:66656120-66656121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571462647	chr6:66656125-66656126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563678824	chr6:66656126-66656127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575493237	chr6:66656131-66656132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183994511	chr6:66656136-66656137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542815517	chr6:66656161-66656162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573812921	chr6:66656195-66656196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542433659	chr6:66656196-66656197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374823439	chr6:66656237-66656238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556738671	chr6:66656285-66656286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566250572	chr6:66656298-66656299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188780589	chr6:66656331-66656332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182044222	chr6:66656340-66656341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561505339	chr6:66656345-66656346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527997414	chr6:66656412-66656413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12198447	chr6:66656468-66656469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561409536	chr6:66656501-66656502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185448012	chr6:66656505-66656506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113342696	chr6:66656526-66656527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568652853	chr6:66656545-66656546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145403286	chr6:66656546-66656547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550967811	chr6:66656566-66656567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571197129	chr6:66656588-66656589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137941411	chr6:66656595-66656596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190553718	chr6:66656604-66656605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79511978	chr6:66656636-66656637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569966300	chr6:66656683-66656684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35864903	chr6:66656703-66656704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114475455	chr6:66656792-66656793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1484575	chr6:66656814-66656815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142499477	chr6:66656838-66656839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567486911	chr6:66656914-66656915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34214259	chr6:66656939-66656940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150535978	chr6:66656948-66656949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112450958	chr6:66656964-66656965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541046196	chr6:66656966-66656967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561673137	chr6:66656983-66656984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182267540	chr6:66657062-66657063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185285130	chr6:66657104-66657105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190044266	chr6:66657139-66657140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368458590	chr6:66657176-66657177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531328291	chr6:66657179-66657180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Multiple myeloma	17550852	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66655400-66656200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:66656200-66663600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:66663600-66664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:66672800-66673600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:66672800-66674200	Enhancers	Fetal Stomach	stomach

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