Variant report

Variant	nsv1027124
Chromosome Location	chr6:65883028-65920473
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	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:

Extended variants
information (count: 581 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539191633	chr6:65887813-65887814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191029450	chr6:65887857-65887858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9345597	chr6:65887937-65887938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557443212	chr6:65887945-65887946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181125881	chr6:65887954-65887955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185666169	chr6:65887999-65888000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571088930	chr6:65888000-65888001	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1952995	chr6:65888001-65888002	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553678106	chr6:65888035-65888036	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190428055	chr6:65888039-65888040	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573451390	chr6:65888043-65888044	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541033530	chr6:65888072-65888073	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543429000	chr6:65888099-65888100	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574216092	chr6:65888159-65888160	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543080947	chr6:65888172-65888173	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79277083	chr6:65888180-65888181	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576672972	chr6:65888182-65888183	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs75603533	chr6:65888187-65888188	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372172575	chr6:65888190-65888191	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528327981	chr6:65888218-65888219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548582674	chr6:65888225-65888226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571915804	chr6:65888234-65888235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs655550	chr6:65888243-65888244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs655545	chr6:65888247-65888248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182951887	chr6:65888249-65888250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540081901	chr6:65888250-65888251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546840984	chr6:65888277-65888278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567159903	chr6:65888293-65888294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535745856	chr6:65888325-65888326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143816368	chr6:65888331-65888332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574131308	chr6:65888351-65888352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112252067	chr6:65888352-65888353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556172227	chr6:65888366-65888367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74448397	chr6:65896418-65896419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115384938	chr6:65896480-65896481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543211898	chr6:65896539-65896540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367968500	chr6:65896567-65896568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547334092	chr6:65896570-65896571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77587244	chr6:65896591-65896592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188943102	chr6:65896624-65896625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550809824	chr6:65896633-65896634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549860467	chr6:65896638-65896639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570156129	chr6:65896688-65896689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76970568	chr6:65896713-65896714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571223262	chr6:65896733-65896734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181741144	chr6:65896744-65896745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566307356	chr6:65896806-65896807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538641197	chr6:65896812-65896813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186211255	chr6:65896814-65896815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80257832	chr6:65896836-65896837	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65887800-65888200	Active TSS	Aorta	Aorta
2	chr6:65888000-65888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:65899600-65900000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:65900000-65900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
9	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:65900800-65901800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:65900800-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:65901200-65902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:65901400-65901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:65901800-65905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:65902000-65910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:65909200-65909600	Enhancers	HUVEC	blood vessel
21	chr6:65910200-65910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:65911600-65913000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:65913000-65913400	ZNF genes & repeats	Fetal Lung	lung

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