Variant report

Variant	nsv609975
Chromosome Location	chr8:5750373-5760241
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	chr8:5745375..5747333-chr8:5749537..5752235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-6	chr8:5757144-5757253	XLOC_006982
2	lnc-ANGPT2-6	chr8:5751155-5751303	XLOC_006982

Extended variants
information (count: 116 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74828355	chr8:5751166-5751167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs139251913	chr8:5751192-5751193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs143181901	chr8:5751217-5751218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs386721635	chr8:5751227-5751228	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs115413668	chr8:5751241-5751242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs571649493	chr8:5751252-5751253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs77517949	chr8:5751264-5751265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550863884	chr8:5751268-5751269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs541530085	chr8:5751287-5751288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs80182275	chr8:5751290-5751291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs549707034	chr8:5751303-5751304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs72624089	chr8:5755014-5755015	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537439357	chr8:5755026-5755027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140545113	chr8:5755037-5755038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375912999	chr8:5755051-5755052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375633504	chr8:5755059-5755060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574445468	chr8:5755064-5755065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549803601	chr8:5755069-5755070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541742763	chr8:5755075-5755076	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs553613964	chr8:5755123-5755124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571992221	chr8:5755124-5755125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs118149258	chr8:5755159-5755160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564299963	chr8:5755178-5755179	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs72624090	chr8:5755186-5755187	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550961514	chr8:5755194-5755195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145632430	chr8:5755196-5755197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138367324	chr8:5755197-5755198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547402696	chr8:5755223-5755224	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72624091	chr8:5755228-5755229	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527985137	chr8:5755231-5755232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533629306	chr8:5755232-5755233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs192446711	chr8:5755236-5755237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537956538	chr8:5755246-5755247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149589071	chr8:5755258-5755259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568128705	chr8:5755260-5755261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535490089	chr8:5755263-5755264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115455365	chr8:5755280-5755281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368145067	chr8:5755287-5755288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572295388	chr8:5755292-5755293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539708213	chr8:5755314-5755315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557674375	chr8:5755362-5755363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs576159846	chr8:5755374-5755375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374523720	chr8:5757176-5757177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs578184465	chr8:5757182-5757183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375753627	chr8:5757202-5757203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs115423223	chr8:5757210-5757211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs557585352	chr8:5757213-5757214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs192381572	chr8:5757214-5757215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs115158168	chr8:5759407-5759408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554889538	chr8:5759420-5759421	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5755000-5755400	Active TSS	Hela-S3	cervix
2	chr8:5759400-5759600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:5759400-5759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:5759600-5760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:5759800-5761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:5760200-5761600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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