Variant report

Variant	nsv886154
Chromosome Location	chr6:73442239-73471683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73442403..73444704-chr6:73445058..73447034,2	K562	blood:
2	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:
3	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:
4	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:
5	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:
6	chr6:73442403..73444704-chr6:73445058..73447034,2	K562	blood:
7	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:

Extended variants
information (count: 1027 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1027 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9351938	chr6:73442239-73442240	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370938118	chr6:73442263-73442264	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148503257	chr6:73442379-73442380	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549933546	chr6:73442402-73442403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561930021	chr6:73442438-73442439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576113040	chr6:73442455-73442456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529473553	chr6:73442478-73442479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73539715	chr6:73442480-73442481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562277399	chr6:73442522-73442523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111597711	chr6:73442556-73442557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147692277	chr6:73442560-73442561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559630523	chr6:73442635-73442636	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372260774	chr6:73442637-73442638	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74334718	chr6:73442653-73442654	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551409827	chr6:73442654-73442655	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563610783	chr6:73442675-73442676	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531068553	chr6:73442680-73442681	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142580827	chr6:73442681-73442682	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76615404	chr6:73442701-73442702	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185227680	chr6:73442726-73442727	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144833782	chr6:73442728-73442729	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368394343	chr6:73442765-73442766	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539024934	chr6:73442783-73442784	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112461894	chr6:73442801-73442802	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539416656	chr6:73442821-73442822	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114959472	chr6:73442895-73442896	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575960462	chr6:73442903-73442904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79586764	chr6:73442946-73442947	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147917744	chr6:73442981-73442982	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189713766	chr6:73443012-73443013	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140624778	chr6:73443028-73443029	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553249799	chr6:73443126-73443127	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79830930	chr6:73443140-73443141	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544986105	chr6:73443173-73443174	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563671395	chr6:73443204-73443205	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181365317	chr6:73443220-73443221	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186127201	chr6:73443235-73443236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190861116	chr6:73443236-73443237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28493921	chr6:73443254-73443255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529095756	chr6:73443289-73443290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386702620	chr6:73443352-73443353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6910780	chr6:73443379-73443380	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565961988	chr6:73443380-73443381	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577040432	chr6:73443481-73443482	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551410946	chr6:73443538-73443539	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73539716	chr6:73443590-73443591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181878087	chr6:73443597-73443598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555434258	chr6:73443606-73443607	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114255956	chr6:73443639-73443640	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534868374	chr6:73443674-73443675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
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
Breast cancer	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73437800-73455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:73438400-73455400	Weak transcription	HMEC	breast
3	chr6:73438600-73443000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73438600-73447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:73441600-73442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73441800-73442400	ZNF genes & repeats	Psoas Muscle	Psoas
7	chr6:73441800-73442600	Enhancers	Primary B cells from cord blood	blood
8	chr6:73441800-73443800	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:73442000-73443000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:73442200-73442800	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:73442200-73443600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:73442600-73443200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:73442600-73443200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr6:73442800-73443400	Enhancers	GM12878-XiMat	blood
15	chr6:73443000-73444200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:73443200-73443800	Enhancers	Primary B cells from cord blood	blood
17	chr6:73443200-73455400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:73443800-73448400	Weak transcription	Primary B cells from cord blood	blood
19	chr6:73444200-73448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:73447800-73448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:73447800-73449600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:73448000-73450200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:73448400-73448800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:73448400-73449200	Enhancers	Primary B cells from cord blood	blood
25	chr6:73448400-73449200	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:73448400-73451800	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:73448600-73449000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:73448600-73449200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:73448600-73449800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:73448800-73450000	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:73448800-73450000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:73448800-73450200	Enhancers	Primary T cells from cord blood	blood
33	chr6:73448800-73450800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:73449000-73449200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:73449000-73450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:73449000-73450400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:73449200-73449600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr6:73449200-73449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:73449200-73449600	Active TSS	GM12878-XiMat	blood
40	chr6:73449200-73450200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:73449600-73449800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:73449600-73451200	Enhancers	Primary B cells from cord blood	blood
43	chr6:73449600-73451200	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:73449600-73451600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:73449600-73452600	Enhancers	Psoas Muscle	Psoas
46	chr6:73449800-73450200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:73449800-73450800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:73450000-73458400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:73450200-73451200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:73450200-73451200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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