Variant report

Variant	nsv982087
Chromosome Location	chr8:4696669-4719081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:
2	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:

Extended variants
information (count: 363 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75787844	chr8:4703202-4703203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374433217	chr8:4703218-4703219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs66778963	chr8:4703224-4703225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138191169	chr8:4703239-4703240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189046433	chr8:4703259-4703260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78356754	chr8:4703266-4703267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573619774	chr8:4703268-4703269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534569217	chr8:4703270-4703271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553781966	chr8:4703278-4703279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117075151	chr8:4703293-4703294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142872613	chr8:4703311-4703312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571309673	chr8:4703312-4703313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369628037	chr8:4703322-4703323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564617507	chr8:4703346-4703347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17071702	chr8:4703355-4703356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544019584	chr8:4703363-4703364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570162642	chr8:4703364-4703365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547551175	chr8:4703390-4703391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143270031	chr8:4703404-4703405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528786689	chr8:4703430-4703431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114490565	chr8:4703431-4703432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148246758	chr8:4703435-4703436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532947877	chr8:4703438-4703439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17071707	chr8:4703442-4703443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537147359	chr8:4703444-4703445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530494477	chr8:4703451-4703452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549174295	chr8:4703457-4703458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78361884	chr8:4703460-4703461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534628438	chr8:4703462-4703463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141288650	chr8:4703474-4703475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76921689	chr8:4703490-4703491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539826877	chr8:4703501-4703502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60793572	chr8:4703521-4703522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6984688	chr8:4703525-4703526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182547636	chr8:4703542-4703543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556026511	chr8:4703543-4703544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574280908	chr8:4703547-4703548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186373188	chr8:4703551-4703552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560097472	chr8:4703556-4703557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533412029	chr8:4703560-4703561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545009940	chr8:4703578-4703579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539006246	chr8:4703593-4703594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563102537	chr8:4703594-4703595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530661943	chr8:4703600-4703601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558527524	chr8:4703603-4703604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190831066	chr8:4703632-4703633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528259354	chr8:4703639-4703640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546345234	chr8:4703654-4703655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58128246	chr8:4703671-4703672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538524052	chr8:4703673-4703674	Enhancers	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
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
Breast cancer	21364760	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4703200-4704000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:4704200-4704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:4709600-4711400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr8:4709600-4711800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr8:4709800-4710000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr8:4709800-4711400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr8:4709800-4711600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr8:4710800-4711400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr8:4711400-4712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:4711600-4712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:4711800-4712000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:4712000-4712400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:4712000-4712400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:4712000-4712400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:4712000-4712400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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