Variant report

Variant	nsv511345
Chromosome Location	chr6:69135009-69142008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:73158464..73161460-chr6:69141039..69142539,2	K562	blood:
2	chr17:41400752..41402306-chr6:69141039..69142539,2	MCF-7	breast:
3	chr6:69131492..69134265-chr6:69138928..69141362,2	MCF-7	breast:
4	chr22:20918726..20919648-chr6:69136151..69136812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223247	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76251388	chr6:69137612-69137613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534795844	chr6:69137632-69137633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17576854	chr6:69137665-69137666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550427540	chr6:69137762-69137763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570435386	chr6:69137783-69137784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34347075	chr6:69137787-69137788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142458402	chr6:69137809-69137810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546379956	chr6:69137884-69137885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75073028	chr6:69137917-69137918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190818617	chr6:69137953-69137954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561882633	chr6:69137965-69137966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144778576	chr6:69138029-69138030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543991565	chr6:69138047-69138048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151303351	chr6:69138052-69138053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183004358	chr6:69138078-69138079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3011912	chr6:69138091-69138092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186539484	chr6:69138172-69138173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140573897	chr6:69138188-69138189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150482161	chr6:69138215-69138216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573414030	chr6:69138220-69138221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541546374	chr6:69138258-69138259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138343660	chr6:69138263-69138264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191895791	chr6:69138275-69138276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377029261	chr6:69138309-69138310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62415528	chr6:69138335-69138336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546556111	chr6:69138351-69138352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114141658	chr6:69138363-69138364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34203765	chr6:69138383-69138384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184289337	chr6:69139822-69139823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72893507	chr6:69139868-69139869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573586378	chr6:69139896-69139897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188538913	chr6:69139926-69139927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193111505	chr6:69139975-69139976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576278069	chr6:69139978-69139979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576620174	chr6:69139991-69139992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545228662	chr6:69140062-69140063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185519043	chr6:69140084-69140085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533456363	chr6:69140087-69140088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543816810	chr6:69140111-69140112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375754636	chr6:69140114-69140115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116806267	chr6:69140133-69140134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141271943	chr6:69140160-69140161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189175605	chr6:69140252-69140253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180865515	chr6:69140271-69140272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376040207	chr6:69140274-69140275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117273989	chr6:69140286-69140287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184313102	chr6:69140355-69140356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551547932	chr6:69140390-69140391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547945583	chr6:69140417-69140418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79527493	chr6:69140464-69140465	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
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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69137600-69138400	Enhancers	NH-A	brain
2	chr6:69139800-69142400	Weak transcription	Stomach Mucosa	stomach

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