Variant report

Variant	nsv539380
Chromosome Location	chr8:4054508-4130522
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	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
3	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:

Extended variants
information (count: 2156 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:2156 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552104492	chr8:4058203-4058204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570621428	chr8:4058205-4058206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537913898	chr8:4058210-4058211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550380593	chr8:4058231-4058232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181954477	chr8:4058248-4058249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7004082	chr8:4058255-4058256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs59781912	chr8:4058260-4058261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186990723	chr8:4058271-4058272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147126875	chr8:4058276-4058277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558556245	chr8:4058277-4058278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577036671	chr8:4058279-4058280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544302976	chr8:4058280-4058281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375950848	chr8:4058292-4058293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534609060	chr8:4058300-4058301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6986772	chr8:4058303-4058304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574968592	chr8:4058305-4058306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561404387	chr8:4058315-4058316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542206722	chr8:4058320-4058321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79698096	chr8:4058322-4058323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147655844	chr8:4058346-4058347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189268448	chr8:4058351-4058352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142348174	chr8:4058365-4058366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531716465	chr8:4058371-4058372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181572532	chr8:4058372-4058373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568995474	chr8:4058374-4058375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114363953	chr8:4058377-4058378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150210523	chr8:4058382-4058383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566778082	chr8:4058390-4058391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199653171	chr8:4058392-4058393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6990955	chr8:4058393-4058394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75838831	chr8:4058402-4058403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185836578	chr8:4058404-4058405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538765619	chr8:4058416-4058417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149384736	chr8:4058420-4058421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574402549	chr8:4058421-4058422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542416881	chr8:4058422-4058423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190162328	chr8:4058436-4058437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572719248	chr8:4058441-4058442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17069384	chr8:4058452-4058453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143546164	chr8:4058467-4058468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552954010	chr8:4058473-4058474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543554804	chr8:4058479-4058480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563907261	chr8:4058501-4058502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17069389	chr8:4058510-4058511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529336722	chr8:4058513-4058514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548389791	chr8:4058517-4058518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180993631	chr8:4058520-4058521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372030170	chr8:4058548-4058549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546546467	chr8:4058552-4058553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527619402	chr8:4058557-4058558	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4058200-4058400	Enhancers	Fetal Lung	lung
2	chr8:4058200-4058800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:4059800-4060600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:4060400-4061000	Enhancers	Fetal Lung	lung
5	chr8:4066800-4067200	Active TSS	Fetal Muscle Trunk	muscle
6	chr8:4069200-4069600	Enhancers	Fetal Lung	lung
7	chr8:4069600-4070800	Weak transcription	Fetal Lung	lung
8	chr8:4070400-4071800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:4070400-4074600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:4070600-4070800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:4070600-4071600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:4070600-4071600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:4070600-4074600	Enhancers	Fetal Brain Male	brain
14	chr8:4070800-4071400	Enhancers	Fetal Lung	lung
15	chr8:4070800-4072600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:4071000-4071400	Enhancers	Fetal Brain Female	brain
17	chr8:4071400-4071600	Enhancers	Brain Substantia Nigra	brain
18	chr8:4071400-4072600	Weak transcription	Fetal Brain Female	brain
19	chr8:4071600-4072600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:4071600-4073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:4071800-4072200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:4072200-4072800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:4072200-4074400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:4072400-4072600	Enhancers	Brain Substantia Nigra	brain
25	chr8:4072600-4072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:4072600-4073600	Enhancers	Brain Germinal Matrix	brain
27	chr8:4072600-4074200	Enhancers	Fetal Muscle Leg	muscle
28	chr8:4072600-4074400	Enhancers	Fetal Brain Female	brain
29	chr8:4072800-4073200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:4073200-4074000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:4073200-4074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:4073400-4074400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:4074600-4078200	Weak transcription	Fetal Brain Male	brain
34	chr8:4078200-4078600	Enhancers	Fetal Brain Male	brain
35	chr8:4089800-4092800	Enhancers	Dnd41	blood
36	chr8:4092000-4092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:4092000-4092600	Enhancers	Fetal Heart	heart
38	chr8:4092200-4092800	Enhancers	Fetal Muscle Leg	muscle
39	chr8:4092800-4093400	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:4093400-4093600	Enhancers	Fetal Muscle Leg	muscle
41	chr8:4100400-4102000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:4100600-4101800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:4100800-4101400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:4101400-4101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:4101400-4101800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:4107400-4108600	Bivalent Enhancer	Fetal Heart	heart
47	chr8:4119800-4120200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:4119800-4120200	Enhancers	Dnd41	blood
49	chr8:4128000-4128400	Active TSS	Duodenum Mucosa	Duodenum
50	chr8:4128000-4128400	Enhancers	Fetal Intestine Small	intestine

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