Variant report

Variant	nsv7921
Chromosome Location	chr6:75029817-75031869
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	chr6:75026464..75029067-chr6:75031297..75033184,2	K562	blood:
2	chr6:75012871..75015540-chr6:75027590..75030064,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1532101	chr6:75029866-75029867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182523651	chr6:75029878-75029879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370749748	chr6:75029925-75029926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569579328	chr6:75029965-75029966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117883733	chr6:75030016-75030017	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs56020332	chr6:75030022-75030023	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558643378	chr6:75030077-75030078	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187152039	chr6:75030156-75030157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544012098	chr6:75030219-75030220	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189109306	chr6:75030251-75030252	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35165629	chr6:75030316-75030317	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574439506	chr6:75030324-75030325	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542602884	chr6:75030342-75030343	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559660594	chr6:75030390-75030391	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs77448403	chr6:75030395-75030396	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201824303	chr6:75030396-75030397	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79022588	chr6:75030397-75030398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561159229	chr6:75030398-75030399	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572491930	chr6:75030401-75030402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181555915	chr6:75030414-75030415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9360773	chr6:75030426-75030427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9343133	chr6:75030430-75030431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs118131538	chr6:75030479-75030480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185698489	chr6:75030507-75030508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9343134	chr6:75030616-75030617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148193407	chr6:75030632-75030633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548150241	chr6:75030660-75030661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373912635	chr6:75030671-75030672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533800486	chr6:75030717-75030718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561945609	chr6:75030751-75030752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558328980	chr6:75030764-75030765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576534597	chr6:75030780-75030781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77893830	chr6:75030789-75030790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200479896	chr6:75030790-75030791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75498531	chr6:75030877-75030878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555981347	chr6:75030956-75030957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4708145	chr6:75030959-75030960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141153665	chr6:75030974-75030975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147000226	chr6:75030988-75030989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573120573	chr6:75031000-75031001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138216120	chr6:75031020-75031021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190159177	chr6:75031056-75031057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554444356	chr6:75031160-75031161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544808147	chr6:75031171-75031172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563105276	chr6:75031205-75031206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4708146	chr6:75031230-75031231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12528947	chr6:75031234-75031235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567165854	chr6:75031245-75031246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182904127	chr6:75031252-75031253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115423053	chr6:75031255-75031256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75028600-75030600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr6:75028600-75030800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:75028600-75031200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:75029200-75030000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:75029200-75030000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:75029200-75030600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:75029200-75030800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:75029400-75030200	Enhancers	Colon Smooth Muscle	Colon
9	chr6:75029400-75030600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:75029800-75030000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:75030000-75030400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:75030200-75030600	Enhancers	A549	lung
13	chr6:75030400-75031400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:75030800-75031800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:75030800-75031800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:75031800-75032000	Enhancers	HUES64 Cell Line	embryonic stem cell

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