Variant report

Variant	nsv539379
Chromosome Location	chr8:3999147-4033089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:

Extended variants
information (count: 690 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532582706	chr8:3999152-3999153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60545803	chr8:3999153-3999154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111526740	chr8:3999170-3999171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33986875	chr8:3999179-3999180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532971535	chr8:3999182-3999183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138181484	chr8:3999184-3999185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117121444	chr8:3999186-3999187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535293849	chr8:3999192-3999193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386721234	chr8:3999194-3999195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34262920	chr8:3999196-3999197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567290931	chr8:3999198-3999199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548509024	chr8:3999216-3999217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143711713	chr8:3999218-3999219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568268321	chr8:3999222-3999223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571323440	chr8:3999224-3999225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539249975	chr8:3999235-3999236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557560782	chr8:3999247-3999248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71511201	chr8:3999250-3999251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76589390	chr8:3999257-3999258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554961946	chr8:3999259-3999260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113237981	chr8:3999267-3999268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370916243	chr8:3999269-3999270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386721235	chr8:3999271-3999272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375008303	chr8:3999273-3999274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369802543	chr8:3999274-3999275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372781696	chr8:3999276-3999277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563174630	chr8:3999284-3999285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529360744	chr8:3999289-3999290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13268627	chr8:3999299-3999300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549304800	chr8:3999304-3999305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186603394	chr8:3999318-3999319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192605926	chr8:3999321-3999322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79995261	chr8:3999323-3999324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571387220	chr8:3999330-3999331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572260468	chr8:3999344-3999345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541271078	chr8:3999360-3999361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13270835	chr8:3999374-3999375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531910281	chr8:3999381-3999382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376345957	chr8:3999382-3999383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550687193	chr8:3999387-3999388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376595999	chr8:3999389-3999390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569481481	chr8:3999397-3999398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536399910	chr8:3999400-3999401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555254539	chr8:3999409-3999410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17069126	chr8:3999426-3999427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533955602	chr8:3999436-3999437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558560574	chr8:3999443-3999444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576814607	chr8:3999450-3999451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74928455	chr8:3999473-3999474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562836609	chr8:3999478-3999479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Breast cancer	21364760	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
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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
7	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:4026400-4027200	Enhancers	HepG2	liver
18	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
20	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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