Variant report

Variant	nsv517771
Chromosome Location	chr8:6171324-6188792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
2	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
3	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:
4	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6999296	chr8:6171324-6171325	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565841792	chr8:6171327-6171328	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138342322	chr8:6171328-6171329	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551577840	chr8:6171335-6171336	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571545134	chr8:6171352-6171353	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537241941	chr8:6171358-6171359	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188221907	chr8:6171366-6171367	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7016596	chr8:6171375-6171376	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181362630	chr8:6171385-6171386	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35029054	chr8:6171400-6171401	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76220395	chr8:6171401-6171402	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534742690	chr8:6171410-6171411	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17076425	chr8:6171414-6171415	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185584594	chr8:6171415-6171416	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543243580	chr8:6171418-6171419	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143723830	chr8:6171438-6171439	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573807680	chr8:6171449-6171450	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7007316	chr8:6171462-6171463	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147221362	chr8:6171486-6171487	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138779532	chr8:6171557-6171558	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551490309	chr8:6171587-6171588	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575042030	chr8:6171598-6171599	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547781597	chr8:6173008-6173009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570880612	chr8:6173017-6173018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4840736	chr8:6173027-6173028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556368627	chr8:6173031-6173032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371193907	chr8:6173044-6173045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55765610	chr8:6173045-6173046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11376962	chr8:6173056-6173057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117172455	chr8:6173060-6173061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181252480	chr8:6173064-6173065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555643685	chr8:6173073-6173074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10086903	chr8:6173075-6173076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187123776	chr8:6173121-6173122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191500335	chr8:6173123-6173124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145971448	chr8:6173132-6173133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545916675	chr8:6173139-6173140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551607893	chr8:6173159-6173160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139786958	chr8:6173164-6173165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541997095	chr8:6173182-6173183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561970012	chr8:6173198-6173199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73662784	chr8:6173200-6173201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12546031	chr8:6173225-6173226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143187022	chr8:6173242-6173243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533166905	chr8:6173268-6173269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550298240	chr8:6173274-6173275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554648088	chr8:6173298-6173299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570007141	chr8:6173317-6173318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565411182	chr8:6173343-6173344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535662960	chr8:6173348-6173349	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6170800-6171600	Flanking Active TSS	A549	lung
2	chr8:6170800-6171600	Enhancers	Osteobl	bone
3	chr8:6171000-6171400	Bivalent Enhancer	HepG2	liver
4	chr8:6173000-6173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:6173200-6173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:6182200-6182400	Enhancers	Lung	lung
7	chr8:6187800-6189800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:6188000-6188200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:6188000-6189800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:6188200-6189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:6188400-6189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:6188400-6189200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:6188400-6190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:6188600-6188800	Enhancers	Osteobl	bone
15	chr8:6188600-6189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:6188600-6190000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:6188600-6190000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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