Variant report

Variant	nsv604848
Chromosome Location	chr6:150518920-150519462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150518298..150521152-chr6:150523437..150526060,2	K562	blood:
2	chr6:150510588..150515411-chr6:150515857..150521257,7	MCF-7	breast:
3	chr6:150512430..150515646-chr6:150516901..150519316,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113653421	chr6:150518929-150518930	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113206057	chr6:150518944-150518945	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs56026097	chr6:150518947-150518948	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35878217	chr6:150518952-150518953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35267609	chr6:150518955-150518956	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113594307	chr6:150518959-150518960	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs55641037	chr6:150518983-150518984	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111816926	chr6:150518992-150518993	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9383720	chr6:150519000-150519001	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs9383721	chr6:150519001-150519002	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540203324	chr6:150519004-150519005	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9371813	chr6:150519008-150519009	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9479904	chr6:150519017-150519018	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538191472	chr6:150519021-150519022	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557661904	chr6:150519023-150519024	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9322251	chr6:150519031-150519032	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577726002	chr6:150519032-150519033	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540058306	chr6:150519041-150519042	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9383722	chr6:150519048-150519049	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9371815	chr6:150519050-150519051	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111451118	chr6:150519055-150519056	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573017552	chr6:150519056-150519057	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541798022	chr6:150519057-150519058	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561792307	chr6:150519078-150519079	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539111728	chr6:150519096-150519097	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112400650	chr6:150519099-150519100	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13209306	chr6:150519100-150519101	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112160856	chr6:150519103-150519104	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531100425	chr6:150519127-150519128	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9479908	chr6:150519139-150519140	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80048266	chr6:150519141-150519142	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13209323	chr6:150519148-150519149	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371851525	chr6:150519151-150519152	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76165228	chr6:150519175-150519176	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375414879	chr6:150519190-150519191	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564625202	chr6:150519194-150519195	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77431660	chr6:150519196-150519197	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56016425	chr6:150519200-150519201	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112955272	chr6:150519217-150519218	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374611491	chr6:150519242-150519243	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77957878	chr6:150519243-150519244	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55933069	chr6:150519244-150519245	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112144166	chr6:150519247-150519248	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56189143	chr6:150519248-150519249	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113328032	chr6:150519265-150519266	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55715433	chr6:150519271-150519272	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113922080	chr6:150519295-150519296	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529028886	chr6:150519299-150519300	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548998811	chr6:150519335-150519336	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55711893	chr6:150519336-150519337	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150499600-150519600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:150514800-150524000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:150515400-150519600	Weak transcription	Fetal Brain Male	brain
4	chr6:150516400-150519000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:150517000-150519000	Enhancers	Colonic Mucosa	Colon
6	chr6:150517400-150519000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:150517400-150519800	Weak transcription	K562	blood
8	chr6:150517600-150529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:150518000-150522200	Enhancers	Left Ventricle	heart
10	chr6:150518200-150520000	Enhancers	Right Atrium	heart
11	chr6:150518200-150520800	Active TSS	Duodenum Mucosa	Duodenum
12	chr6:150518200-150523000	Weak transcription	Stomach Mucosa	stomach
13	chr6:150518200-150530800	Enhancers	Fetal Heart	heart
14	chr6:150518400-150521400	Weak transcription	Esophagus	oesophagus
15	chr6:150518600-150519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:150518600-150519800	Weak transcription	Fetal Brain Female	brain
17	chr6:150518600-150519800	Weak transcription	Right Ventricle	heart
18	chr6:150518600-150520000	Weak transcription	Psoas Muscle	Psoas
19	chr6:150518600-150520000	Weak transcription	NHEK	skin
20	chr6:150518600-150521400	Weak transcription	HMEC	breast
21	chr6:150518600-150521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:150518600-150522400	Weak transcription	Pancreas	Pancrea
23	chr6:150518600-150523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:150518600-150523200	Weak transcription	Lung	lung
25	chr6:150518800-150519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:150518800-150519800	Weak transcription	Fetal Intestine Large	intestine
27	chr6:150518800-150520200	Weak transcription	Fetal Intestine Small	intestine
28	chr6:150518800-150520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:150518800-150521400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:150518800-150521600	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:150518800-150521600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:150519000-150519400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:150519000-150519400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:150519000-150520800	Weak transcription	Colonic Mucosa	Colon
35	chr6:150519400-150521000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:150519400-150522000	Enhancers	Skeletal Muscle Female	skeletal muscle

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