Variant report

Variant	nsv889893
Chromosome Location	chr8:2947380-2955158
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	chr8:2943250..2945425-chr8:2952775..2955064,2	K562	blood:
2	chr8:2949313..2951484-chr8:2956361..2958211,2	K562	blood:

Extended variants
information (count: 501 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11779522	chr8:2947380-2947381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115435767	chr8:2947388-2947389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556024119	chr8:2947391-2947392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181572207	chr8:2947468-2947469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538441105	chr8:2947472-2947473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150589101	chr8:2947478-2947479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572213187	chr8:2947487-2947488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540733341	chr8:2947502-2947503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112536239	chr8:2947508-2947509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554673171	chr8:2947534-2947535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184754383	chr8:2947554-2947555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537551205	chr8:2947557-2947558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543480626	chr8:2947563-2947564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551100428	chr8:2947567-2947568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571004573	chr8:2947574-2947575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563168839	chr8:2947593-2947594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113340076	chr8:2947608-2947609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7818994	chr8:2947612-2947613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545719687	chr8:2947630-2947631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553534310	chr8:2947634-2947635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565296511	chr8:2947636-2947637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189667603	chr8:2947637-2947638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573868195	chr8:2947643-2947644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7820127	chr8:2947707-2947708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567781078	chr8:2947713-2947714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530028327	chr8:2947749-2947750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549809080	chr8:2947762-2947763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569715810	chr8:2947766-2947767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538502019	chr8:2947814-2947815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558828021	chr8:2947817-2947818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7838044	chr8:2947818-2947819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534849287	chr8:2947825-2947826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554355068	chr8:2947826-2947827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181630009	chr8:2947830-2947831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7819413	chr8:2947832-2947833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372681548	chr8:2947839-2947840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35534326	chr8:2947863-2947864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556950947	chr8:2947892-2947893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576918271	chr8:2947907-2947908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7013012	chr8:2947919-2947920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565598460	chr8:2947922-2947923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376762275	chr8:2947925-2947926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527865270	chr8:2947932-2947933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6558715	chr8:2947936-2947937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185969800	chr8:2947943-2947944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144772642	chr8:2947951-2947952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572550180	chr8:2947953-2947954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553971380	chr8:2947966-2947967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569679014	chr8:2947989-2947990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368621106	chr8:2948063-2948064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2928600-2949000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:2943400-2950200	Weak transcription	K562	blood
3	chr8:2950200-2950800	Enhancers	K562	blood
4	chr8:2950800-2965000	Weak transcription	K562	blood
5	chr8:2952800-2953200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:2953200-2953600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:2953600-2954800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:2953600-2955600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:2953600-2955600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:2954400-2955200	Enhancers	Brain Hippocampus Middle	brain
11	chr8:2954600-2954800	Enhancers	Brain Angular Gyrus	brain
12	chr8:2954600-2955200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:2954600-2955200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:2954800-2955400	Enhancers	Brain Anterior Caudate	brain
15	chr8:2954800-2955400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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