Variant report

Variant	nsv1035112
Chromosome Location	chr8:5774995-5802532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
2	chr8:5775799..5778570-chr8:6262790..6264825,2	K562	blood:

Variant related genes	Relation type
ENSG00000246089	chromatin interactions
ENSG00000147316	chromatin interactions

Extended variants
information (count: 429 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151128522	chr8:5775799-5775800	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs59124711	chr8:5775837-5775838	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539345237	chr8:5775841-5775842	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557366311	chr8:5775870-5775871	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575835024	chr8:5775871-5775872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191696601	chr8:5775895-5775896	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182743085	chr8:5775924-5775925	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188843533	chr8:5775928-5775929	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572973489	chr8:5775959-5775960	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs193056744	chr8:5775963-5775964	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564972815	chr8:5775965-5775966	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558739497	chr8:5775971-5775972	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577147838	chr8:5775990-5775991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185817841	chr8:5776002-5776003	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs17456092	chr8:5776021-5776022	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201690763	chr8:5776031-5776032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200505298	chr8:5776032-5776033	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201709181	chr8:5776033-5776034	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74999882	chr8:5776041-5776042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190442426	chr8:5776063-5776064	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141428856	chr8:5776090-5776091	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527413447	chr8:5776112-5776113	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4512397	chr8:5776116-5776117	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573583412	chr8:5776124-5776125	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192607479	chr8:5776141-5776142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73660227	chr8:5776152-5776153	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542479414	chr8:5776165-5776166	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145139402	chr8:5776182-5776183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183778149	chr8:5776188-5776189	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113949499	chr8:5776189-5776190	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554709328	chr8:5776205-5776206	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557360875	chr8:5776208-5776209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534056744	chr8:5776244-5776245	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558624621	chr8:5776246-5776247	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188505202	chr8:5776250-5776251	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577211113	chr8:5776322-5776323	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138823205	chr8:5776325-5776326	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs181417824	chr8:5776349-5776350	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574620745	chr8:5776353-5776354	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529488370	chr8:5776355-5776356	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186092696	chr8:5776358-5776359	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs527477276	chr8:5776362-5776363	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs76197473	chr8:5776372-5776373	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563983177	chr8:5776389-5776390	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190360205	chr8:5776393-5776394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549482032	chr8:5776471-5776472	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569549765	chr8:5776486-5776487	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374924931	chr8:5776498-5776499	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs11785532	chr8:5776499-5776500	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537594356	chr8:5776523-5776524	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5792200-5794800	Enhancers	Dnd41	blood
2	chr8:5796200-5796600	Enhancers	Fetal Heart	heart

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