Variant report

Variant	nsv890004
Chromosome Location	chr8:5593343-5640236
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	chr8:5610821..5612324-chr8:5615595..5617703,2	K562	blood:
2	chr8:5610821..5612324-chr8:5615595..5617703,2	K562	blood:

Extended variants
information (count: 830 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs859805	chr8:5595400-5595401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140223375	chr8:5595417-5595418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576059066	chr8:5595419-5595420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186838468	chr8:5595431-5595432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561690054	chr8:5595433-5595434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573498494	chr8:5595467-5595468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143523087	chr8:5595471-5595472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148005175	chr8:5595475-5595476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2527119	chr8:5595488-5595489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75958175	chr8:5595511-5595512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190294109	chr8:5595515-5595516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563271341	chr8:5595517-5595518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375488146	chr8:5595528-5595529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2725722	chr8:5595543-5595544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550484532	chr8:5595547-5595548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140757269	chr8:5595560-5595561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554746848	chr8:5595574-5595575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374708315	chr8:5595582-5595583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182860664	chr8:5595585-5595586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116179433	chr8:5595594-5595595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566003373	chr8:5595600-5595601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539903917	chr8:5595615-5595616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs859804	chr8:5595619-5595620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376188913	chr8:5595628-5595629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77631555	chr8:5595629-5595630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62487574	chr8:5595668-5595669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188507958	chr8:5595674-5595675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78729371	chr8:5595681-5595682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573607929	chr8:5595682-5595683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540835526	chr8:5595724-5595725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11992213	chr8:5595728-5595729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577789365	chr8:5595731-5595732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79500670	chr8:5595738-5595739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77523122	chr8:5595743-5595744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530515448	chr8:5595748-5595749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193230851	chr8:5595770-5595771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562327122	chr8:5595779-5595780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2527118	chr8:5595791-5595792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11785609	chr8:5595798-5595799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566250000	chr8:5595806-5595807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28441544	chr8:5595812-5595813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs859803	chr8:5595837-5595838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572770814	chr8:5595848-5595849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117799374	chr8:5595850-5595851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183719982	chr8:5595860-5595861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189106327	chr8:5595861-5595862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192170549	chr8:5595869-5595870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11136917	chr8:5595886-5595887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2725721	chr8:5595910-5595911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550219644	chr8:5595937-5595938	Enhancers	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
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	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5595400-5596000	Enhancers	Dnd41	blood
2	chr8:5596000-5599000	Weak transcription	Dnd41	blood
3	chr8:5598800-5599600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:5599000-5599400	Enhancers	Esophagus	oesophagus
5	chr8:5599000-5600600	Enhancers	Dnd41	blood
6	chr8:5602400-5603000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:5615400-5615600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:5616200-5617200	Enhancers	Fetal Brain Male	brain
9	chr8:5620800-5621000	ZNF genes & repeats	NHDF-Ad	bronchial
10	chr8:5622600-5623000	ZNF genes & repeats	Small Intestine	intestine
11	chr8:5623000-5624800	Weak transcription	Small Intestine	intestine
12	chr8:5640200-5640600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:5640200-5641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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