Variant report

Variant	nsv1028399
Chromosome Location	chr6:66389079-66403840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66389053..66391661-chr6:66392622..66394298,2	MCF-7	breast:
2	chr3:189034137..189034728-chr6:66401890..66402666,2	MCF-7	breast:
3	chr6:66389053..66391661-chr6:66392622..66394298,2	MCF-7	breast:

Extended variants
information (count: 291 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs564846897	chr6:66390837-66390838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2130491	chr6:66390851-66390852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6927185	chr6:66390862-66390863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140859453	chr6:66390863-66390864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549752009	chr6:66390924-66390925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142330756	chr6:66390934-66390935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538786688	chr6:66390936-66390937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9453362	chr6:66390941-66390942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558651269	chr6:66390946-66390947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150832893	chr6:66390949-66390950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139239604	chr6:66390955-66390956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539874427	chr6:66390956-66390957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188410262	chr6:66390959-66390960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575069535	chr6:66390962-66390963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115614708	chr6:66390981-66390982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563757590	chr6:66391058-66391059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77973577	chr6:66391090-66391091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149962085	chr6:66391121-66391122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564981913	chr6:66391137-66391138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527238574	chr6:66391141-66391142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141011082	chr6:66391152-66391153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373919073	chr6:66391177-66391178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143424996	chr6:66391189-66391190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529980912	chr6:66391199-66391200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192139667	chr6:66391203-66391204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573747990	chr6:66391259-66391260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146722183	chr6:66391270-66391271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538845319	chr6:66391275-66391276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2087538	chr6:66391281-66391282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148859245	chr6:66391282-66391283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183460922	chr6:66391296-66391297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544446008	chr6:66391299-66391300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143486479	chr6:66391332-66391333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575053922	chr6:66391370-66391371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537316529	chr6:66391402-66391403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187995093	chr6:66391403-66391404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577325283	chr6:66391405-66391406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147987041	chr6:66391411-66391412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558683295	chr6:66391418-66391419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572212728	chr6:66391445-66391446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373638829	chr6:66391448-66391449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541012702	chr6:66391510-66391511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562633794	chr6:66391552-66391553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529716890	chr6:66391606-66391607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543320985	chr6:66391645-66391646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs59121619	chr6:66391650-66391651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563612379	chr6:66391674-66391675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9342494	chr6:66391675-66391676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551990516	chr6:66391708-66391709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565817618	chr6:66391711-66391712	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66390800-66391000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:66390800-66391200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:66390800-66391800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:66391400-66392000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:66392800-66393800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:66393800-66396000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:66396000-66396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:66396200-66396600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:66399600-66400400	Enhancers	Placenta	Placenta
10	chr6:66401800-66402200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:66402200-66403400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:66403600-66403800	Enhancers	Rectal Mucosa Donor 29	rectum

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