Variant report

Variant	nsv1023448
Chromosome Location	chr8:4679573-4698174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4695207..4695958-chr8:4732618..4733342,2	MCF-7	breast:
2	chr8:4695059..4696118-chr8:4854167..4855161,8	MCF-7	breast:
3	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:

Extended variants
information (count: 1310 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1310 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73181558	chr8:4681235-4681236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114893361	chr8:4681237-4681238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569176344	chr8:4681245-4681246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536132756	chr8:4681277-4681278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144270229	chr8:4681280-4681281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567347358	chr8:4681285-4681286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530063177	chr8:4681288-4681289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534655071	chr8:4681290-4681291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549845772	chr8:4681294-4681295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371431244	chr8:4681314-4681315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374467372	chr8:4681329-4681330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553061951	chr8:4681337-4681338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79984512	chr8:4681353-4681354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545632240	chr8:4681377-4681378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557251641	chr8:4681396-4681397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531371671	chr8:4681397-4681398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184391067	chr8:4681417-4681418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543611015	chr8:4681426-4681427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188826977	chr8:4681431-4681432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561536274	chr8:4681445-4681446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528095518	chr8:4681448-4681449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540192903	chr8:4681452-4681453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181215510	chr8:4681499-4681500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186192227	chr8:4681500-4681501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189624267	chr8:4681505-4681506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568975195	chr8:4681511-4681512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529873347	chr8:4681547-4681548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577658247	chr8:4681571-4681572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548193447	chr8:4681587-4681588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200823911	chr8:4681603-4681604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112137489	chr8:4681604-4681605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34597770	chr8:4681605-4681606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397892048	chr8:4681606-4681607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180848817	chr8:4681625-4681626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201991856	chr8:4681632-4681633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549757660	chr8:4681633-4681634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571482180	chr8:4681647-4681648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187594852	chr8:4681653-4681654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547904209	chr8:4681685-4681686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527583896	chr8:4681707-4681708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75115180	chr8:4681734-4681735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146007226	chr8:4681766-4681767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371866614	chr8:4681805-4681806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575770362	chr8:4681815-4681816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536804142	chr8:4681816-4681817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139901776	chr8:4681820-4681821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569616748	chr8:4681831-4681832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190979223	chr8:4681843-4681844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142226630	chr8:4681845-4681846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573566610	chr8:4681849-4681850	Weak transcription	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
Ductal carcinoma	22052326	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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4681200-4693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4684600-4685200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:4684800-4685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:4685000-4685200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:4685800-4686000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:4693800-4694000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:4693800-4694600	Enhancers	Brain Germinal Matrix	brain
8	chr8:4693800-4695000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:4694000-4694600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:4694000-4694600	Enhancers	Fetal Brain Female	brain
11	chr8:4694200-4694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:4694400-4694600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:4694600-4694800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4694800-4695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:4694800-4695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:4695600-4695800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:4695600-4696000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:4696000-4696200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:4696200-4696400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr8:4696200-4696400	Enhancers	Esophagus	oesophagus

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