Variant report

Variant	nsv1028911
Chromosome Location	chr8:4026505-4139686
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	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:
3	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
4	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
5	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:

Extended variants
information (count: 3089 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:3089 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1714741	chr8:4026505-4026506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190324068	chr8:4026513-4026514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528601366	chr8:4026515-4026516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183126384	chr8:4026520-4026521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559296537	chr8:4026521-4026522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533140746	chr8:4026528-4026529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187617256	chr8:4026534-4026535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563221159	chr8:4026541-4026542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190838762	chr8:4026543-4026544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374927695	chr8:4026594-4026595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182557920	chr8:4026603-4026604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148519100	chr8:4026606-4026607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534422090	chr8:4026611-4026612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187917090	chr8:4026615-4026616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367591307	chr8:4026616-4026617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571785503	chr8:4026625-4026626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556075745	chr8:4026632-4026633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370670705	chr8:4026654-4026655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557712156	chr8:4026665-4026666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575991446	chr8:4026674-4026675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192427442	chr8:4026681-4026682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554671501	chr8:4026685-4026686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184432302	chr8:4026686-4026687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142868300	chr8:4026687-4026688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386721252	chr8:4026688-4026689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113495061	chr8:4026689-4026690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79525975	chr8:4026690-4026691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544790227	chr8:4026691-4026692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151063449	chr8:4026701-4026702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568619686	chr8:4026712-4026713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75374201	chr8:4026725-4026726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142125067	chr8:4026726-4026727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117138266	chr8:4026729-4026730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1714740	chr8:4026731-4026732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115071882	chr8:4026740-4026741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539268974	chr8:4026741-4026742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538408047	chr8:4026744-4026745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553862812	chr8:4026762-4026763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557116175	chr8:4026771-4026772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112921276	chr8:4026785-4026786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576966382	chr8:4026808-4026809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144423672	chr8:4026817-4026818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376816984	chr8:4026824-4026825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573203083	chr8:4026825-4026826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80036133	chr8:4026829-4026830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11775827	chr8:4026837-4026838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113881033	chr8:4026843-4026844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558819365	chr8:4026875-4026876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576941842	chr8:4026877-4026878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3849830	chr8:4026878-4026879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:131)

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
Ependymoma	20639864	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4026400-4027200	Enhancers	HepG2	liver
2	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
4	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:4049000-4049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:4049000-4049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:4049200-4049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:4049200-4049800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:4049200-4050200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:4049200-4050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:4049200-4050400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:4049400-4049600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:4049400-4049600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:4049400-4049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:4049400-4049800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:4049400-4049800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:4049400-4050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:4049400-4050600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:4049400-4051200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:4049600-4049800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:4049800-4050000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:4049800-4050400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:4049800-4051000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:4049800-4054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:4050000-4050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:4050400-4051800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:4050600-4051000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:4050600-4053800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:4051000-4051200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:4051000-4052800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:4051200-4052000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:4051400-4053200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:4051800-4052000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:4052000-4052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:4053200-4053400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:4053400-4054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:4054000-4054400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:4058200-4058400	Enhancers	Fetal Lung	lung
39	chr8:4058200-4058800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:4059800-4060600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:4060400-4061000	Enhancers	Fetal Lung	lung
42	chr8:4066800-4067200	Active TSS	Fetal Muscle Trunk	muscle
43	chr8:4069200-4069600	Enhancers	Fetal Lung	lung
44	chr8:4069600-4070800	Weak transcription	Fetal Lung	lung
45	chr8:4070400-4071800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:4070400-4074600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:4070600-4070800	Enhancers	Fetal Muscle Leg	muscle
48	chr8:4070600-4071600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:4070600-4071600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:4070600-4074600	Enhancers	Fetal Brain Male	brain

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