Variant report

Variant	nsv970046
Chromosome Location	chr6:73438631-73444293
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	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:
3	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:

Extended variants
information (count: 220 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs569389725	chr6:73438658-73438659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536458458	chr6:73438705-73438706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181292120	chr6:73438723-73438724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573502048	chr6:73438737-73438738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540597227	chr6:73438754-73438755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114395810	chr6:73438755-73438756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148186241	chr6:73438763-73438764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538458244	chr6:73438770-73438771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556575865	chr6:73438923-73438924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562973556	chr6:73438941-73438942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530690653	chr6:73438942-73438943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542503307	chr6:73438988-73438989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561214848	chr6:73439002-73439003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185599572	chr6:73439015-73439016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9293900	chr6:73439053-73439054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9293901	chr6:73439062-73439063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553354323	chr6:73439098-73439099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571774296	chr6:73439131-73439132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531985907	chr6:73439154-73439155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545565387	chr6:73439155-73439156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550223328	chr6:73439156-73439157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568902574	chr6:73439221-73439222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536847324	chr6:73439254-73439255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150741226	chr6:73439272-73439273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567135571	chr6:73439323-73439324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534458058	chr6:73439325-73439326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559312641	chr6:73439411-73439412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10538258	chr6:73439481-73439482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531327691	chr6:73439487-73439488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34970703	chr6:73439489-73439490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs68124836	chr6:73439520-73439521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367711960	chr6:73439533-73439534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191099283	chr6:73439552-73439553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577263150	chr6:73439556-73439557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538252474	chr6:73439564-73439565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556611293	chr6:73439574-73439575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115779927	chr6:73439603-73439604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138059321	chr6:73439649-73439650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534444356	chr6:73439695-73439696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573017803	chr6:73439741-73439742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576155032	chr6:73439767-73439768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182717175	chr6:73439790-73439791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531973685	chr6:73439804-73439805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550204898	chr6:73439827-73439828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543644728	chr6:73439892-73439893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529783364	chr6:73439903-73439904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548280281	chr6:73439934-73439935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186006435	chr6:73439979-73439980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534394517	chr6:73439980-73439981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142548404	chr6:73440020-73440021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73437800-73441800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:73437800-73455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:73438400-73455400	Weak transcription	HMEC	breast
4	chr6:73438600-73440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:73438600-73443000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:73438600-73447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73439800-73441800	Weak transcription	Psoas Muscle	Psoas
8	chr6:73440600-73441200	Enhancers	Fetal Heart	heart
9	chr6:73440800-73441600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:73441600-73442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:73441800-73442200	Enhancers	GM12878-XiMat	blood
12	chr6:73441800-73442400	ZNF genes & repeats	Psoas Muscle	Psoas
13	chr6:73441800-73442600	Enhancers	Primary B cells from cord blood	blood
14	chr6:73441800-73443800	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:73442000-73443000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:73442200-73442800	Flanking Active TSS	GM12878-XiMat	blood
17	chr6:73442200-73443600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:73442600-73443200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:73442600-73443200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:73442800-73443400	Enhancers	GM12878-XiMat	blood
21	chr6:73443000-73444200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:73443200-73443800	Enhancers	Primary B cells from cord blood	blood
23	chr6:73443200-73455400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:73443800-73448400	Weak transcription	Primary B cells from cord blood	blood
25	chr6:73444200-73448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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