Variant report

Variant	nsv970727
Chromosome Location	chr6:69319985-69327051
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	chr6:69301094..69303705-chr6:69318926..69320788,2	K562	blood:
2	chr6:69287462..69289135-chr6:69323588..69325496,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs12216491	chr6:69320035-69320036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536759966	chr6:69320107-69320108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201103497	chr6:69320131-69320132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371031949	chr6:69320132-69320133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2802712	chr6:69320163-69320164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369653903	chr6:69320171-69320172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556274311	chr6:69320239-69320240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576427740	chr6:69320267-69320268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77772340	chr6:69320268-69320269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558854330	chr6:69320295-69320296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572418792	chr6:69320397-69320398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114561828	chr6:69320417-69320418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9454590	chr6:69320450-69320451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376004765	chr6:69320471-69320472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368421458	chr6:69320490-69320491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11961010	chr6:69320498-69320499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9454591	chr6:69320524-69320525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554170122	chr6:69320533-69320534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4708197	chr6:69320537-69320538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554620880	chr6:69320639-69320640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532168978	chr6:69320656-69320657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546147247	chr6:69320657-69320658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143925867	chr6:69320701-69320702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528396927	chr6:69320721-69320722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148633785	chr6:69320732-69320733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9454592	chr6:69320734-69320735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531652497	chr6:69320781-69320782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117394249	chr6:69320784-69320785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550273083	chr6:69320881-69320882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531068841	chr6:69320912-69320913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113944637	chr6:69320930-69320931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186617560	chr6:69320933-69320934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562338993	chr6:69320956-69320957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75171574	chr6:69320961-69320962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572365284	chr6:69320963-69320964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535028016	chr6:69320966-69320967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113551543	chr6:69321012-69321013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142128692	chr6:69321039-69321040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548166744	chr6:69321074-69321075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575007532	chr6:69321140-69321141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147822577	chr6:69321357-69321358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141372622	chr6:69321365-69321366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189993479	chr6:69321403-69321404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111450707	chr6:69321417-69321418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375827089	chr6:69321421-69321422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2802711	chr6:69321441-69321442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566733471	chr6:69321470-69321471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559399315	chr6:69321480-69321481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2802710	chr6:69321495-69321496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139206350	chr6:69321520-69321521	Enhancers	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
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69320000-69321600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:69320000-69321800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr6:69321600-69323200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:69321800-69323200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:69323200-69323400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:69323200-69326000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:69323400-69324200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr6:69324200-69324600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:69324600-69325000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:69325000-69325600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:69325800-69326000	Enhancers	Right Ventricle	heart

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