Variant report

Variant	nsv889998
Chromosome Location	chr8:5545090-5626989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5610821..5612324-chr8:5615595..5617703,2	K562	blood:
2	chr8:5539160..5541154-chr8:5572222..5575011,2	K562	blood:
3	chr4:47028381..47029208-chr8:5581216..5581723,2	MCF-7	breast:
4	chr8:5610821..5612324-chr8:5615595..5617703,2	K562	blood:

Extended variants
information (count: 1131 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548951368	chr8:5553625-5553626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567344980	chr8:5553627-5553628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113952000	chr8:5553656-5553657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535922490	chr8:5553665-5553666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569396484	chr8:5553680-5553681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546595018	chr8:5553710-5553711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571268457	chr8:5553732-5553733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148448639	chr8:5553734-5553735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373406546	chr8:5553750-5553751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539706856	chr8:5553751-5553752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558419898	chr8:5553766-5553767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181285713	chr8:5553769-5553770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537630776	chr8:5553782-5553783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17363085	chr8:5553790-5553791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10866995	chr8:5553797-5553798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs17074623	chr8:5553816-5553817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375075983	chr8:5553817-5553818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552902327	chr8:5553818-5553819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577976694	chr8:5553826-5553827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79300340	chr8:5553829-5553830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115909987	chr8:5553843-5553844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376336941	chr8:5553847-5553848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76883532	chr8:5553848-5553849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117388163	chr8:5553887-5553888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185937178	chr8:5553893-5553894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191940371	chr8:5553894-5553895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142697036	chr8:5553898-5553899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151000152	chr8:5553915-5553916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73185608	chr8:5553926-5553927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575013709	chr8:5553927-5553928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140746814	chr8:5553932-5553933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570315052	chr8:5553942-5553943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537359947	chr8:5553944-5553945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543926324	chr8:5553945-5553946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567522665	chr8:5553946-5553947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77201567	chr8:5553947-5553948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534753317	chr8:5553957-5553958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144176427	chr8:5553961-5553962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578069986	chr8:5553968-5553969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538999653	chr8:5553970-5553971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557108500	chr8:5553985-5553986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575458898	chr8:5553986-5553987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542949562	chr8:5554011-5554012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561026513	chr8:5554015-5554016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376974861	chr8:5554022-5554023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs118032982	chr8:5554023-5554024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147806486	chr8:5554034-5554035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564973127	chr8:5554057-5554058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141243675	chr8:5554069-5554070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550517470	chr8:5554076-5554077	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Obesity	21131291	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5553600-5553800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:5553800-5554200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:5554200-5554400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:5554400-5554600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:5554400-5554800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:5554800-5555200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:5588000-5588200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:5590800-5591600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:5590800-5591800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:5590800-5592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:5591000-5591600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:5591200-5591400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:5595400-5596000	Enhancers	Dnd41	blood
14	chr8:5596000-5599000	Weak transcription	Dnd41	blood
15	chr8:5598800-5599600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:5599000-5599400	Enhancers	Esophagus	oesophagus
17	chr8:5599000-5600600	Enhancers	Dnd41	blood
18	chr8:5602400-5603000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:5615400-5615600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:5616200-5617200	Enhancers	Fetal Brain Male	brain
21	chr8:5620800-5621000	ZNF genes & repeats	NHDF-Ad	bronchial
22	chr8:5622600-5623000	ZNF genes & repeats	Small Intestine	intestine
23	chr8:5623000-5624800	Weak transcription	Small Intestine	intestine

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