Variant report

Variant	nsv603588
Chromosome Location	chr6:67793539-67834574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
2	chr6:67796143..67796843-chr6:68573181..68573682,2	MCF-7	breast:
3	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
4	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:

Extended variants
information (count: 232 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs576463271	chr6:67803810-67803811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2502252	chr6:67803841-67803842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568375940	chr6:67803855-67803856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559589922	chr6:67803871-67803872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528794643	chr6:67803877-67803878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571910532	chr6:67803880-67803881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149938740	chr6:67803885-67803886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539292113	chr6:67803900-67803901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542365836	chr6:67803930-67803931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562144710	chr6:67803954-67803955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575118447	chr6:67803973-67803974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531029614	chr6:67803986-67803987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs137941187	chr6:67804000-67804001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2503901	chr6:67804002-67804003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180885625	chr6:67804016-67804017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143442379	chr6:67804031-67804032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111592973	chr6:67804059-67804060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565931809	chr6:67804063-67804064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534622192	chr6:67804075-67804076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538260152	chr6:67804087-67804088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2502253	chr6:67804103-67804104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4710337	chr6:67804122-67804123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536731880	chr6:67804133-67804134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535601572	chr6:67804144-67804145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576551135	chr6:67804154-67804155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539011689	chr6:67804175-67804176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2502254	chr6:67804186-67804187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2503900	chr6:67804194-67804195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534037644	chr6:67804198-67804199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12195460	chr6:67804202-67804203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562297132	chr6:67804203-67804204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143430624	chr6:67804276-67804277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185505186	chr6:67804293-67804294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544698051	chr6:67804300-67804301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564547467	chr6:67804309-67804310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533480926	chr6:67804342-67804343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546976714	chr6:67804355-67804356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544213878	chr6:67804357-67804358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531695919	chr6:67804406-67804407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9294736	chr6:67804416-67804417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528384410	chr6:67804417-67804418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553339997	chr6:67804418-67804419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143848506	chr6:67804451-67804452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568223638	chr6:67804474-67804475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536821775	chr6:67804492-67804493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189818133	chr6:67804527-67804528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182808340	chr6:67804539-67804540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539148139	chr6:67804545-67804546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114858535	chr6:67804565-67804566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572788250	chr6:67804569-67804570	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67803800-67804400	Enhancers	Brain Germinal Matrix	brain
2	chr6:67804200-67804600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:67805400-67806200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:67805400-67806200	Enhancers	HepG2	liver
5	chr6:67821600-67822800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:67822200-67822800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:67825000-67825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:67833400-67833800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:67833800-67835000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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