Variant report

Variant	nsv1021444
Chromosome Location	chr8:6232126-6249694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6245766..6247303-chr8:6249126..6250864,2	K562	blood:
2	chr8:6245766..6247303-chr8:6249126..6250864,2	K562	blood:
3	chr8:6245309..6247015-chr8:6262084..6263587,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-8	chr8:6248485-6250049	ucscGeneNc_uc003wqf_1

Extended variants
information (count: 183 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs560029588	chr8:6245021-6245022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182988874	chr8:6245027-6245028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545324273	chr8:6245035-6245036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374705527	chr8:6245042-6245043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563917363	chr8:6245047-6245048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13268576	chr8:6245060-6245061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187283538	chr8:6245064-6245065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192570845	chr8:6245071-6245072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13267500	chr8:6245072-6245073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185531286	chr8:6245074-6245075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145027232	chr8:6245093-6245094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13267750	chr8:6245109-6245110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78557113	chr8:6245118-6245119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189186149	chr8:6245131-6245132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192809447	chr8:6245136-6245137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184257933	chr8:6245140-6245141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528369010	chr8:6245170-6245171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4840924	chr8:6245171-6245172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73661720	chr8:6245176-6245177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576765414	chr8:6245188-6245189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138755852	chr8:6245190-6245191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188785462	chr8:6245191-6245192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536876003	chr8:6245196-6245197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553289117	chr8:6245210-6245211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112257195	chr8:6245211-6245212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111788726	chr8:6245225-6245226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4840925	chr8:6245234-6245235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559157301	chr8:6245263-6245264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577239787	chr8:6245308-6245309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181157501	chr8:6245312-6245313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184589852	chr8:6245326-6245327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4840926	chr8:6245332-6245333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188901550	chr8:6245350-6245351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182128369	chr8:6245388-6245389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187655754	chr8:6245408-6245409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191926522	chr8:6245418-6245419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181037271	chr8:6245441-6245442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544974422	chr8:6245458-6245459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564889358	chr8:6245473-6245474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28405452	chr8:6245487-6245488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144523479	chr8:6245494-6245495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77871678	chr8:6245514-6245515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569667970	chr8:6245517-6245518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148461280	chr8:6245527-6245528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141665188	chr8:6245528-6245529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150532333	chr8:6245575-6245576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559001627	chr8:6245584-6245585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575514760	chr8:6245587-6245588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140449313	chr8:6245596-6245597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541312287	chr8:6245597-6245598	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Myelofibrosis	22110671	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
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6245000-6246000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:6245400-6245800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:6248000-6249000	Enhancers	HepG2	liver
4	chr8:6249000-6249400	Flanking Active TSS	HepG2	liver
5	chr8:6249400-6249800	Enhancers	HepG2	liver

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