Variant report

Variant	nsv1025993
Chromosome Location	chr8:4324683-4357522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
2	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:

Extended variants
information (count: 904 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181687174	chr8:4324686-4324687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146378609	chr8:4324695-4324696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73514625	chr8:4324696-4324697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528642328	chr8:4324701-4324702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547093364	chr8:4324707-4324708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17070359	chr8:4324708-4324709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs367722168	chr8:4324713-4324714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550672166	chr8:4324755-4324756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371508843	chr8:4324768-4324769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569937941	chr8:4324769-4324770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536909527	chr8:4324773-4324774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549202751	chr8:4324785-4324786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56318504	chr8:4324786-4324787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534442922	chr8:4324792-4324793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554938043	chr8:4324836-4324837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77188179	chr8:4324838-4324839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538629174	chr8:4324861-4324862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538126312	chr8:4324908-4324909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186032623	chr8:4324913-4324914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76766580	chr8:4324928-4324929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367633494	chr8:4324937-4324938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17336970	chr8:4324950-4324951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573460266	chr8:4324960-4324961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540795797	chr8:4324962-4324963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35018916	chr8:4324966-4324967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149649806	chr8:4324972-4324973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568881729	chr8:4325603-4325604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187875841	chr8:4325623-4325624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528931763	chr8:4325642-4325643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145209927	chr8:4325643-4325644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534544086	chr8:4325646-4325647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552582789	chr8:4325687-4325688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11988893	chr8:4325688-4325689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11984460	chr8:4325698-4325699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556686780	chr8:4325706-4325707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192441395	chr8:4325709-4325710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111349259	chr8:4325717-4325718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145626169	chr8:4325722-4325723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35482894	chr8:4325743-4325744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572100166	chr8:4325748-4325749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114409786	chr8:4325750-4325751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568848703	chr8:4325759-4325760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565037542	chr8:4325763-4325764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577039069	chr8:4325775-4325776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544091256	chr8:4325781-4325782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73660877	chr8:4325785-4325786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375293855	chr8:4325793-4325794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184488063	chr8:4325809-4325810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548301833	chr8:4325812-4325813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145286849	chr8:4325817-4325818	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4324400-4325000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4325600-4325800	Enhancers	Gastric	stomach
3	chr8:4325800-4329000	Weak transcription	Gastric	stomach
4	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
6	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
11	chr8:4347000-4347400	Enhancers	Gastric	stomach
12	chr8:4352800-4354200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:4353400-4353800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:4353400-4355000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:4353400-4355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:4353600-4353800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:4353600-4354400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:4353600-4354400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:4353800-4354000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:4353800-4354000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:4353800-4354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:4353800-4354400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:4353800-4354600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:4354000-4354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:4354000-4354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:4354000-4355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:4354200-4354400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:4354200-4355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:4354400-4355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:4355400-4355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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