Variant report

Variant	nsv1020515
Chromosome Location	chr8:4654598-4729060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4695207..4695958-chr8:4732618..4733342,2	MCF-7	breast:
2	chr8:4724555..4726658-chr8:4730823..4733487,2	K562	blood:
3	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:
4	chr8:4695059..4696118-chr8:4854167..4855161,8	MCF-7	breast:
5	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:

Extended variants
information (count: 2894 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2894 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370869746	chr8:4658406-4658407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9644372	chr8:4658410-4658411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs55777483	chr8:4658422-4658423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs56138441	chr8:4658435-4658436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571820038	chr8:4658444-4658445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556868111	chr8:4658453-4658454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575518032	chr8:4658454-4658455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542523727	chr8:4658459-4658460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367696146	chr8:4658460-4658461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373757891	chr8:4658472-4658473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562123615	chr8:4658486-4658487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529226669	chr8:4658495-4658496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371883613	chr8:4658502-4658503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191634693	chr8:4658510-4658511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559876945	chr8:4658515-4658516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533600041	chr8:4658527-4658528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551980747	chr8:4658539-4658540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557035299	chr8:4658564-4658565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531250122	chr8:4658565-4658566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183040408	chr8:4658566-4658567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9644373	chr8:4658590-4658591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567253935	chr8:4658613-4658614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547771890	chr8:4658628-4658629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144893136	chr8:4658634-4658635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570990262	chr8:4658639-4658640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138728156	chr8:4658642-4658643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115983329	chr8:4658646-4658647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575306238	chr8:4658663-4658664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567662414	chr8:4658667-4658668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9644374	chr8:4658686-4658687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188223032	chr8:4658690-4658691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192509582	chr8:4658720-4658721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9644375	chr8:4658740-4658741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376696664	chr8:4658745-4658746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17347911	chr8:4658747-4658748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545482743	chr8:4658765-4658766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563880208	chr8:4658774-4658775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530958946	chr8:4658786-4658787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576206393	chr8:4658788-4658789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561411424	chr8:4658844-4658845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575936069	chr8:4658855-4658856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199508693	chr8:4658865-4658866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546179446	chr8:4658870-4658871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558420689	chr8:4658880-4658881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76631463	chr8:4658897-4658898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61745359	chr8:4658901-4658902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550215211	chr8:4658902-4658903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115664466	chr8:4658908-4658909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577477769	chr8:4658918-4658919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145225011	chr8:4658921-4658922	Weak transcription	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
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
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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4654200-4654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4658400-4670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:4668000-4668200	Enhancers	Fetal Brain Male	brain
4	chr8:4668200-4669600	Weak transcription	Fetal Brain Male	brain
5	chr8:4669400-4669800	Active TSS	Brain Angular Gyrus	brain
6	chr8:4669400-4670000	Active TSS	Brain Substantia Nigra	brain
7	chr8:4669600-4670000	Enhancers	Fetal Brain Male	brain
8	chr8:4670000-4671600	Weak transcription	Fetal Brain Male	brain
9	chr8:4671600-4672000	Enhancers	Fetal Brain Male	brain
10	chr8:4681200-4693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:4684600-4685200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:4684800-4685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:4685000-4685200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4685800-4686000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:4693800-4694000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:4693800-4694600	Enhancers	Brain Germinal Matrix	brain
17	chr8:4693800-4695000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:4694000-4694600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:4694000-4694600	Enhancers	Fetal Brain Female	brain
20	chr8:4694200-4694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:4694400-4694600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:4694600-4694800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:4694800-4695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:4694800-4695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:4695600-4695800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:4695600-4696000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:4696000-4696200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:4696200-4696400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr8:4696200-4696400	Enhancers	Esophagus	oesophagus
30	chr8:4703200-4704000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:4704200-4704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:4709600-4711400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr8:4709600-4711800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr8:4709800-4710000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr8:4709800-4711400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr8:4709800-4711600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr8:4710800-4711400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr8:4711400-4712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:4711600-4712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:4711800-4712000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:4712000-4712400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:4712000-4712400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr8:4712000-4712400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:4712000-4712400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:4728400-4728600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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