Variant report

Variant	nsv519391
Chromosome Location	chr6:161812626-161814907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161809042..161810655-chr6:161813271..161814976,2	MCF-7	breast:
2	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
3	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11964284	chr6:161812626-161812627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552221271	chr6:161812676-161812677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148595059	chr6:161812721-161812722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11967026	chr6:161812728-161812729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182659961	chr6:161812779-161812780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142786879	chr6:161812848-161812849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185370725	chr6:161812849-161812850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534541541	chr6:161812906-161812907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147258109	chr6:161812915-161812916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10455880	chr6:161812932-161812933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539669661	chr6:161812969-161812970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10455881	chr6:161813005-161813006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576484849	chr6:161813037-161813038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542202912	chr6:161813043-161813044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531944241	chr6:161813101-161813102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190678285	chr6:161813132-161813133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572116190	chr6:161813139-161813140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182845590	chr6:161813142-161813143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10455882	chr6:161813159-161813160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560037987	chr6:161813191-161813192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10455883	chr6:161813195-161813196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552122237	chr6:161813204-161813205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10455884	chr6:161813210-161813211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531354884	chr6:161813220-161813221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375862714	chr6:161813246-161813247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200298473	chr6:161813262-161813263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112304578	chr6:161813347-161813348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144683431	chr6:161813369-161813370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189084249	chr6:161813377-161813378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10945747	chr6:161813394-161813395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs202036026	chr6:161813416-161813417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148241377	chr6:161813536-161813537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150905751	chr6:161813537-161813538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67425763	chr6:161813558-161813559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536588095	chr6:161813565-161813566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571193696	chr6:161813567-161813568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199873875	chr6:161813576-161813577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539999156	chr6:161813605-161813606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193007390	chr6:161813661-161813662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556190993	chr6:161813664-161813665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535536733	chr6:161813709-161813710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140815594	chr6:161813738-161813739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572079746	chr6:161813771-161813772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372052314	chr6:161813803-161813804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67799063	chr6:161813804-161813805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397723896	chr6:161813814-161813815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374900642	chr6:161813815-161813816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541042633	chr6:161813819-161813820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182936138	chr6:161813846-161813847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577092512	chr6:161813847-161813848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161797600-161815000	Weak transcription	Fetal Lung	lung
3	chr6:161811000-161815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:161811200-161814600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:161811200-161815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:161811400-161814400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:161814400-161815000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:161814400-161815600	Enhancers	Psoas Muscle	Psoas
9	chr6:161814400-161817800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:161814600-161815000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:161814600-161815600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:161814800-161817800	Enhancers	Brain Germinal Matrix	brain

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