Variant report

Variant	nsv539382
Chromosome Location	chr8:4088107-4130383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4092133..4092721-chr8:4257157..4257997,2	MCF-7	breast:
2	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
3	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:

Extended variants
information (count: 894 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551391849	chr8:4089805-4089806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533960870	chr8:4089819-4089820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369367501	chr8:4089826-4089827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78554847	chr8:4089836-4089837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79401980	chr8:4089837-4089838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373138435	chr8:4089839-4089840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571555532	chr8:4089840-4089841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538400243	chr8:4089848-4089849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533802884	chr8:4089869-4089870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185799347	chr8:4089870-4089871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575137277	chr8:4089880-4089881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10091948	chr8:4089887-4089888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554275844	chr8:4089888-4089889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572772115	chr8:4089905-4089906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10104908	chr8:4089910-4089911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565522882	chr8:4089913-4089914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577463115	chr8:4089922-4089923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536024784	chr8:4089923-4089924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544959893	chr8:4089924-4089925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189425030	chr8:4089928-4089929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576126860	chr8:4089931-4089932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530344087	chr8:4089935-4089936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182034066	chr8:4089952-4089953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560397372	chr8:4089957-4089958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527644330	chr8:4089961-4089962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552293624	chr8:4089962-4089963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570872744	chr8:4089965-4089966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28573165	chr8:4089975-4089976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372652881	chr8:4089980-4089981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550497701	chr8:4089984-4089985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568692211	chr8:4089986-4089987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536066902	chr8:4089999-4090000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554617880	chr8:4090013-4090014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374517487	chr8:4090025-4090026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143282136	chr8:4090026-4090027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147542205	chr8:4090027-4090028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558257038	chr8:4090066-4090067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1700047	chr8:4090091-4090092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1714676	chr8:4090096-4090097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556916547	chr8:4090104-4090105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139425852	chr8:4090113-4090114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146608705	chr8:4090122-4090123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530351856	chr8:4090143-4090144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186173200	chr8:4090152-4090153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145218475	chr8:4090154-4090155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190634449	chr8:4090168-4090169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182765268	chr8:4090171-4090172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550434046	chr8:4090177-4090178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186651010	chr8:4090183-4090184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1700046	chr8:4090184-4090185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4089800-4092800	Enhancers	Dnd41	blood
2	chr8:4092000-4092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:4092000-4092600	Enhancers	Fetal Heart	heart
4	chr8:4092200-4092800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:4092800-4093400	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:4093400-4093600	Enhancers	Fetal Muscle Leg	muscle
7	chr8:4100400-4102000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:4100600-4101800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:4100800-4101400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:4101400-4101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:4101400-4101800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:4107400-4108600	Bivalent Enhancer	Fetal Heart	heart
13	chr8:4119800-4120200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:4119800-4120200	Enhancers	Dnd41	blood
15	chr8:4128000-4128400	Active TSS	Duodenum Mucosa	Duodenum
16	chr8:4128000-4128400	Enhancers	Fetal Intestine Small	intestine
17	chr8:4128000-4128400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr8:4128000-4132600	Bivalent Enhancer	Fetal Heart	heart

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