Variant report

Variant	nsv889927
Chromosome Location	chr8:3912898-3926858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1469 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:1469 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7001863	chr8:3912898-3912899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539560158	chr8:3912905-3912906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377400663	chr8:3912923-3912924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557576260	chr8:3912926-3912927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138254516	chr8:3912940-3912941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117562788	chr8:3912948-3912949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113980452	chr8:3912971-3912972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200934111	chr8:3912981-3912982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142563180	chr8:3912982-3912983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555625250	chr8:3913023-3913024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574024020	chr8:3913042-3913043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541026109	chr8:3913044-3913045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180766768	chr8:3913054-3913055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149611303	chr8:3913057-3913058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183748570	chr8:3913060-3913061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545440686	chr8:3913066-3913067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562984061	chr8:3913069-3913070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563650714	chr8:3913073-3913074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141484383	chr8:3913082-3913083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190343576	chr8:3913091-3913092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182582989	chr8:3913093-3913094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565421085	chr8:3913094-3913095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528028823	chr8:3913099-3913100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143357780	chr8:3913118-3913119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148376436	chr8:3913129-3913130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565630105	chr8:3913132-3913133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539065684	chr8:3913138-3913139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557799073	chr8:3913167-3913168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540542186	chr8:3913196-3913197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573337158	chr8:3913210-3913211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569446419	chr8:3913213-3913214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537224595	chr8:3913222-3913223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555586247	chr8:3913248-3913249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573983288	chr8:3913249-3913250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541668403	chr8:3913254-3913255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116715852	chr8:3913276-3913277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142287398	chr8:3913281-3913282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187183639	chr8:3913288-3913289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374428880	chr8:3913312-3913313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563789925	chr8:3913332-3913333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531056803	chr8:3913337-3913338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191655278	chr8:3913344-3913345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561906217	chr8:3913345-3913346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140123215	chr8:3913347-3913348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370141507	chr8:3913389-3913390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548640850	chr8:3913394-3913395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2554528	chr8:3913395-3913396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537428646	chr8:3913402-3913403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80187209	chr8:3913408-3913409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2554527	chr8:3913409-3913410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:126)

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	23813976	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3909000-3922000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:3918000-3920400	Enhancers	Fetal Heart	heart
3	chr8:3918200-3918400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:3918400-3919400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:3919400-3919800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:3919400-3919800	Enhancers	Liver	Liver
7	chr8:3919400-3919800	Enhancers	Fetal Intestine Small	intestine
8	chr8:3919400-3919800	Enhancers	Pancreas	Pancrea
9	chr8:3919400-3920000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:3919600-3919800	Enhancers	Adipose Nuclei	Adipose
11	chr8:3919800-3922000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:3920000-3923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:3920400-3937000	Weak transcription	Fetal Heart	heart
14	chr8:3921600-3924800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:3922000-3922400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:3922000-3922800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:3922000-3924800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:3922200-3924800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr8:3922200-3924800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:3922200-3924800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:3922400-3923800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:3922600-3923200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:3922800-3923600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:3922800-3924800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr8:3923000-3923200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:3923000-3924800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:3923200-3923400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:3923200-3923600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:3923200-3924000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:3923400-3924000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:3923400-3924400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:3923600-3923800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:3923600-3923800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:3923800-3924000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:3923800-3924200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr8:3923800-3924800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:3924000-3924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:3924000-3924800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:3924200-3924800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:3924400-3924800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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