Variant report

Variant	esv2624240
Chromosome Location	chr6:82174953-82184774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:82174222..82177213-chr6:82462255..82464769,2	MCF-7	breast:
2	chr6:81951165..81951953-chr6:82175557..82176202,3	MCF-7	breast:
3	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112773	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185820194	chr6:82174961-82174962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190731532	chr6:82174991-82174992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573941003	chr6:82175021-82175022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73749122	chr6:82175043-82175044	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559583330	chr6:82175044-82175045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183001398	chr6:82175050-82175051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569377927	chr6:82175051-82175052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564568389	chr6:82175053-82175054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534661390	chr6:82175073-82175074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533286017	chr6:82175087-82175088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549714444	chr6:82175097-82175098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188753317	chr6:82175146-82175147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193205279	chr6:82175209-82175210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372205297	chr6:82175222-82175223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183918249	chr6:82175238-82175239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187252903	chr6:82175244-82175245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563536923	chr6:82175249-82175250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192180176	chr6:82175250-82175251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183898529	chr6:82175276-82175277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571293420	chr6:82175290-82175291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553093356	chr6:82175298-82175299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188680335	chr6:82175391-82175392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9688608	chr6:82175400-82175401	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192303399	chr6:82175420-82175421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143524381	chr6:82175424-82175425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7771802	chr6:82175434-82175435	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7451367	chr6:82175443-82175444	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545158157	chr6:82175464-82175465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184262377	chr6:82175493-82175494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148071958	chr6:82175505-82175506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576649986	chr6:82175533-82175534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543763633	chr6:82175553-82175554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141781209	chr6:82175566-82175567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561905868	chr6:82175569-82175570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529438377	chr6:82175592-82175593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543552907	chr6:82175615-82175616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150518240	chr6:82175633-82175634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9688618	chr6:82175645-82175646	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549251064	chr6:82175736-82175737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1923154	chr6:82175801-82175802	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528804827	chr6:82175823-82175824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1923153	chr6:82175842-82175843	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139802854	chr6:82175852-82175853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78715319	chr6:82175862-82175863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1923152	chr6:82175992-82175993	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567253617	chr6:82176012-82176013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73749123	chr6:82176020-82176021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1923151	chr6:82176071-82176072	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573044425	chr6:82176132-82176133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538562898	chr6:82176142-82176143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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