Variant report

Variant	nsv1015632
Chromosome Location	chr6:66056747-66114121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:
2	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:
3	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
4	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:
5	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
6	chr6:66097248..66097748-chr7:48217360..48217884,2	MCF-7	breast:

Extended variants
information (count: 271 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1995442	chr6:66061452-66061453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9345608	chr6:66061475-66061476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567031117	chr6:66061476-66061477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534650324	chr6:66061502-66061503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554592086	chr6:66061581-66061582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375150795	chr6:66061590-66061591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567142487	chr6:66061593-66061594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577350737	chr6:66061605-66061606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9445514	chr6:66061618-66061619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151263616	chr6:66061634-66061635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192313613	chr6:66061656-66061657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552550643	chr6:66061707-66061708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371913935	chr6:66061733-66061734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571167612	chr6:66061738-66061739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559929881	chr6:66061755-66061756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112414800	chr6:66061782-66061783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542963494	chr6:66061788-66061789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545661450	chr6:66061822-66061823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9453261	chr6:66061852-66061853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528361043	chr6:66061868-66061869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541681543	chr6:66061871-66061872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139314102	chr6:66061881-66061882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375252360	chr6:66061918-66061919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576663203	chr6:66061922-66061923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182409043	chr6:66061936-66061937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538561709	chr6:66061958-66061959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551068798	chr6:66061961-66061962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564408936	chr6:66061971-66061972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533601475	chr6:66062013-66062014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1342609	chr6:66062019-66062020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375914311	chr6:66062036-66062037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567208616	chr6:66062050-66062051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1995441	chr6:66062084-66062085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549649797	chr6:66062087-66062088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377019392	chr6:66062106-66062107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568080698	chr6:66062133-66062134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536628796	chr6:66062165-66062166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77815200	chr6:66062177-66062178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186767226	chr6:66062179-66062180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539660408	chr6:66062185-66062186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553874192	chr6:66076013-66076014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573664763	chr6:66076032-66076033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373335199	chr6:66076047-66076048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181198297	chr6:66076049-66076050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562687708	chr6:66076067-66076068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9453280	chr6:66076077-66076078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76275816	chr6:66076084-66076085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147454163	chr6:66076106-66076107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527723117	chr6:66076140-66076141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9445530	chr6:66076141-66076142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
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
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66061400-66062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:66061600-66061800	Enhancers	Fetal Lung	lung
3	chr6:66076000-66077200	Enhancers	Fetal Stomach	stomach
4	chr6:66095800-66097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:66096600-66097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:66099200-66099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:66108200-66109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:66109200-66110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:66110000-66110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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