Variant report

Variant	nsv1020832
Chromosome Location	chr8:5790102-5804725
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:

Extended variants
information (count: 216 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs563272789	chr8:5792207-5792208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75465722	chr8:5792209-5792210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550456859	chr8:5792212-5792213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568687339	chr8:5792239-5792240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563695242	chr8:5792261-5792262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532864907	chr8:5792277-5792278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148253320	chr8:5792291-5792292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566203452	chr8:5792293-5792294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369887028	chr8:5792297-5792298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539547224	chr8:5792299-5792300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557732930	chr8:5792300-5792301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367980002	chr8:5792309-5792310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569671176	chr8:5792330-5792331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73197546	chr8:5792337-5792338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34375552	chr8:5792340-5792341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111322144	chr8:5792346-5792347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75242744	chr8:5792351-5792352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139199460	chr8:5792359-5792360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10503342	chr8:5792383-5792384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145272795	chr8:5792417-5792418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114053280	chr8:5792427-5792428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12115050	chr8:5792438-5792439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530483449	chr8:5792450-5792451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115130402	chr8:5792455-5792456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534184162	chr8:5792487-5792488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147143475	chr8:5792503-5792504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548015192	chr8:5792530-5792531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192672223	chr8:5792537-5792538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184341483	chr8:5792542-5792543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533476159	chr8:5792553-5792554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140264991	chr8:5792558-5792559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7822296	chr8:5792570-5792571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537073376	chr8:5792611-5792612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189574656	chr8:5792622-5792623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567593359	chr8:5792625-5792626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534611721	chr8:5792639-5792640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553138946	chr8:5792661-5792662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181224162	chr8:5792662-5792663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12114348	chr8:5792675-5792676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12114616	chr8:5792724-5792725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556299374	chr8:5792727-5792728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373752382	chr8:5792744-5792745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144329955	chr8:5792766-5792767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542684126	chr8:5792799-5792800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368614386	chr8:5792812-5792813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574278175	chr8:5792863-5792864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541321698	chr8:5792876-5792877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7826510	chr8:5792884-5792885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533318922	chr8:5792897-5792898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551536854	chr8:5792914-5792915	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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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