Variant report

Variant	nsv1023026
Chromosome Location	chr8:3984909-4031820
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..4018884,3	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4019883,4	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: 2249 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:2249 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2680611	chr8:3984909-3984910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534498945	chr8:3984918-3984919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375434749	chr8:3984919-3984920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140330319	chr8:3984927-3984928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571143956	chr8:3984931-3984932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6991432	chr8:3984945-3984946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545531434	chr8:3984972-3984973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199764792	chr8:3984976-3984977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553729000	chr8:3984988-3984989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573517288	chr8:3984998-3984999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1714788	chr8:3985002-3985003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537879560	chr8:3985031-3985032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564511231	chr8:3985062-3985063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11781286	chr8:3985064-3985065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11774235	chr8:3985072-3985073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188888995	chr8:3985082-3985083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144281564	chr8:3985095-3985096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369537706	chr8:3985107-3985108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147809393	chr8:3985119-3985120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7011371	chr8:3985130-3985131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs34566254	chr8:3985131-3985132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201391233	chr8:3985146-3985147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150247459	chr8:3985158-3985159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181684739	chr8:3985164-3985165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562497395	chr8:3985173-3985174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570162372	chr8:3985174-3985175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377496482	chr8:3985177-3985178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548222623	chr8:3985184-3985185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567092759	chr8:3985185-3985186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538732560	chr8:3985199-3985200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535694893	chr8:3985202-3985203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559010757	chr8:3985211-3985212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35676711	chr8:3985217-3985218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538520222	chr8:3985223-3985224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1647337	chr8:3985232-3985233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568393898	chr8:3985241-3985242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555347087	chr8:3985261-3985262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531172861	chr8:3985262-3985263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35575150	chr8:3985266-3985267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4527895	chr8:3985268-3985269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145841318	chr8:3985271-3985272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558328470	chr8:3985289-3985290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4551382	chr8:3985292-3985293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185868925	chr8:3985298-3985299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544455938	chr8:3985326-3985327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562348680	chr8:3985328-3985329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529663887	chr8:3985344-3985345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112940047	chr8:3985359-3985360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541444463	chr8:3985374-3985375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556968656	chr8:3985378-3985379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3981800-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3984400-3985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:3984600-3985600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:3985400-3985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:3985600-3985800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:3993800-3994800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:3993800-3994800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:3994000-3994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:3994000-3994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:3994000-3994800	Enhancers	Brain Germinal Matrix	brain
11	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
18	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:4026400-4027200	Enhancers	HepG2	liver
29	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
31	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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