Variant report

Variant	nsv1028164
Chromosome Location	chr8:4818462-4829588
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	chr8:4826578..4828177-chr8:4829806..4832230,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17071915	chr8:4818462-4818463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192756123	chr8:4818478-4818479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539897668	chr8:4818495-4818496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73515808	chr8:4818497-4818498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576351390	chr8:4818502-4818503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537074544	chr8:4818548-4818549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6558950	chr8:4818557-4818558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376602002	chr8:4818566-4818567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183546033	chr8:4818568-4818569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368237343	chr8:4818570-4818571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77241623	chr8:4818571-4818572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189449822	chr8:4818579-4818580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192444712	chr8:4818584-4818585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577819675	chr8:4818593-4818594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370336986	chr8:4818603-4818604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544661480	chr8:4818606-4818607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563250929	chr8:4818608-4818609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530495710	chr8:4818609-4818610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548678466	chr8:4818625-4818626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560981675	chr8:4818672-4818673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528394726	chr8:4818689-4818690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546921800	chr8:4818695-4818696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571430060	chr8:4818701-4818702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375036360	chr8:4818706-4818707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551823997	chr8:4818730-4818731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75251276	chr8:4818756-4818757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184539689	chr8:4818767-4818768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555466153	chr8:4818775-4818776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146962118	chr8:4818787-4818788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368422112	chr8:4818790-4818791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190286787	chr8:4818791-4818792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4623447	chr8:4818801-4818802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577778452	chr8:4818826-4818827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545292420	chr8:4818831-4818832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557558051	chr8:4818853-4818854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556268018	chr8:4818874-4818875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79513240	chr8:4818880-4818881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181529134	chr8:4818882-4818883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186658511	chr8:4818885-4818886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528105699	chr8:4818888-4818889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4637858	chr8:4818895-4818896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189489588	chr8:4818915-4818916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4636228	chr8:4818922-4818923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17071921	chr8:4818928-4818929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569072687	chr8:4818929-4818930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4637859	chr8:4818937-4818938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10090605	chr8:4818950-4818951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549460134	chr8:4818956-4818957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541782681	chr8:4818957-4818958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567281607	chr8:4818974-4818975	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
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
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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4818200-4818800	Weak transcription	Fetal Brain Male	brain
2	chr8:4818800-4819000	Enhancers	Fetal Brain Male	brain
3	chr8:4822000-4822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:4824400-4824800	Enhancers	Fetal Heart	heart

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