Variant report

Variant	nsv889977
Chromosome Location	chr8:4802438-4820177
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	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:
2	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:

Extended variants
information (count: 916 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145428314	chr8:4806609-4806610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561682274	chr8:4806610-4806611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187574230	chr8:4806650-4806651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74677292	chr8:4806665-4806666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559177007	chr8:4806673-4806674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77637179	chr8:4806681-4806682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191906121	chr8:4806706-4806707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79471000	chr8:4806726-4806727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151215774	chr8:4806728-4806729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11998098	chr8:4806739-4806740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568469341	chr8:4806740-4806741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577980651	chr8:4806764-4806765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182076832	chr8:4806814-4806815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547832293	chr8:4806815-4806816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148615294	chr8:4806829-4806830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200776876	chr8:4806837-4806838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140111133	chr8:4806847-4806848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149871343	chr8:4806859-4806860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144950506	chr8:4806896-4806897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543267790	chr8:4806899-4806900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558519856	chr8:4806901-4806902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140864554	chr8:4806919-4806920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554011568	chr8:4806921-4806922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537287803	chr8:4806928-4806929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555399918	chr8:4806930-4806931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573070041	chr8:4806932-4806933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542046247	chr8:4806938-4806939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554931610	chr8:4806943-4806944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374139725	chr8:4806958-4806959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540994617	chr8:4806961-4806962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75903652	chr8:4806994-4806995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577245804	chr8:4807004-4807005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185847117	chr8:4807021-4807022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144665775	chr8:4807023-4807024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138451829	chr8:4807039-4807040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530850884	chr8:4807047-4807048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190262122	chr8:4807059-4807060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564095395	chr8:4807060-4807061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141338710	chr8:4807077-4807078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547947877	chr8:4807090-4807091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371607300	chr8:4807094-4807095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145180363	chr8:4807099-4807100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545724563	chr8:4807103-4807104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376069840	chr8:4807111-4807112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148367476	chr8:4807115-4807116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141426421	chr8:4807118-4807119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532831806	chr8:4807149-4807150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6558946	chr8:4807157-4807158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs115589576	chr8:4807160-4807161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566448283	chr8:4807164-4807165	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4806600-4807400	Enhancers	Adipose Nuclei	Adipose
2	chr8:4807400-4811200	Weak transcription	Adipose Nuclei	Adipose
3	chr8:4810400-4811200	Enhancers	Liver	Liver
4	chr8:4811200-4811400	Flanking Active TSS	Liver	Liver
5	chr8:4811200-4811600	Enhancers	Fetal Intestine Large	intestine
6	chr8:4811200-4811600	Enhancers	Fetal Intestine Small	intestine
7	chr8:4811200-4813000	Enhancers	Adipose Nuclei	Adipose
8	chr8:4811400-4811600	Enhancers	Liver	Liver
9	chr8:4811400-4811800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:4811600-4811800	Flanking Active TSS	Liver	Liver
11	chr8:4811800-4813600	Enhancers	Liver	Liver
12	chr8:4815200-4815800	Enhancers	Fetal Brain Male	brain
13	chr8:4815800-4818000	Weak transcription	Fetal Brain Male	brain
14	chr8:4816600-4817000	Enhancers	Fetal Heart	heart
15	chr8:4816800-4817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:4816800-4817200	Enhancers	Esophagus	oesophagus
17	chr8:4817000-4817200	Flanking Active TSS	Fetal Heart	heart
18	chr8:4817200-4817800	Enhancers	Fetal Heart	heart
19	chr8:4818000-4818200	Enhancers	Fetal Brain Male	brain
20	chr8:4818200-4818800	Weak transcription	Fetal Brain Male	brain
21	chr8:4818800-4819000	Enhancers	Fetal Brain Male	brain

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