Variant report

Variant	nsv1023547
Chromosome Location	chr8:4100599-4142812
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	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:
2	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:

Extended variants
information (count: 739 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565071817	chr8:4100607-4100608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187502714	chr8:4100619-4100620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191786343	chr8:4100650-4100651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374927534	chr8:4100674-4100675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183707022	chr8:4100691-4100692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547212618	chr8:4100695-4100696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376741310	chr8:4100731-4100732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17069716	chr8:4100747-4100748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150055601	chr8:4100751-4100752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144317276	chr8:4100759-4100760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574433699	chr8:4100760-4100761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190420696	chr8:4100783-4100784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553463385	chr8:4100785-4100786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572013677	chr8:4100808-4100809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148775170	chr8:4100809-4100810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564433744	chr8:4100823-4100824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531926265	chr8:4100834-4100835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142443382	chr8:4100856-4100857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561977648	chr8:4100863-4100864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529332770	chr8:4100868-4100869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182657298	chr8:4100902-4100903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117280699	chr8:4100928-4100929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533370715	chr8:4100934-4100935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs41402944	chr8:4100938-4100939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371592748	chr8:4100939-4100940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186890438	chr8:4100942-4100943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556361364	chr8:4100950-4100951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151321158	chr8:4100953-4100954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535158914	chr8:4100960-4100961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553843667	chr8:4100966-4100967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543191343	chr8:4100969-4100970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140231671	chr8:4100970-4100971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539040185	chr8:4100976-4100977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73498565	chr8:4101004-4101005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147667534	chr8:4101011-4101012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142386887	chr8:4101020-4101021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546309453	chr8:4101027-4101028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28476756	chr8:4101041-4101042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60461953	chr8:4101055-4101056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs57119424	chr8:4101062-4101063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559789067	chr8:4101097-4101098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150222760	chr8:4101103-4101104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191377060	chr8:4101113-4101114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75974483	chr8:4101115-4101116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531607445	chr8:4101137-4101138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572431184	chr8:4101160-4101161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550101465	chr8:4101163-4101164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555489061	chr8:4101197-4101198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570132269	chr8:4101198-4101199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373588943	chr8:4101241-4101242	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4100400-4102000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:4100600-4101800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr8:4100800-4101400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:4101400-4101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:4101400-4101800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:4107400-4108600	Bivalent Enhancer	Fetal Heart	heart
7	chr8:4119800-4120200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:4119800-4120200	Enhancers	Dnd41	blood
9	chr8:4128000-4128400	Active TSS	Duodenum Mucosa	Duodenum
10	chr8:4128000-4128400	Enhancers	Fetal Intestine Small	intestine
11	chr8:4128000-4128400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:4128000-4132600	Bivalent Enhancer	Fetal Heart	heart
13	chr8:4139400-4140000	Enhancers	Fetal Brain Female	brain

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