Variant report

Variant	nsv889984
Chromosome Location	chr8:5119564-5157363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 990 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73659779	chr8:5137409-5137410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114154117	chr8:5137444-5137445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182921913	chr8:5137455-5137456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs918150	chr8:5137475-5137476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187598557	chr8:5137480-5137481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572594268	chr8:5137511-5137512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549406490	chr8:5137559-5137560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117460794	chr8:5137585-5137586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142125168	chr8:5137623-5137624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199637130	chr8:5137628-5137629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576498528	chr8:5137630-5137631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190851749	chr8:5137674-5137675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17072852	chr8:5137681-5137682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529555288	chr8:5137682-5137683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17436033	chr8:5137707-5137708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143192541	chr8:5137719-5137720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148280773	chr8:5137721-5137722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184093494	chr8:5137738-5137739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1420848	chr8:5137748-5137749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs117618991	chr8:5137786-5137787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533996021	chr8:5137792-5137793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553884000	chr8:5137803-5137804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141335045	chr8:5137805-5137806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7815410	chr8:5137816-5137817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567466783	chr8:5137822-5137823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534891080	chr8:5137887-5137888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552919564	chr8:5137891-5137892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73190993	chr8:5137901-5137902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150730069	chr8:5137905-5137906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202056436	chr8:5137907-5137908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575447019	chr8:5137924-5137925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558282557	chr8:5137946-5137947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576561551	chr8:5138016-5138017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73507089	chr8:5138081-5138082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188939469	chr8:5138147-5138148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574277059	chr8:5138179-5138180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544037397	chr8:5138198-5138199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137883334	chr8:5138201-5138202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533345698	chr8:5138202-5138203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544199988	chr8:5138218-5138219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551512325	chr8:5138251-5138252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60878162	chr8:5138259-5138260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563052748	chr8:5138267-5138268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530594480	chr8:5138285-5138286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548726065	chr8:5138286-5138287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370938519	chr8:5138301-5138302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534645971	chr8:5138334-5138335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61358520	chr8:5138339-5138340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546909535	chr8:5138341-5138342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564073439	chr8:5138357-5138358	Enhancers	n/a	n/a	Overlapped CNVs	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
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
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
Type 2 diabetes	21526130	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5137400-5139600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:5137800-5140200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:5138200-5138400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:5138400-5138800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:5138400-5138800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:5138400-5138800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:5138400-5138800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:5138400-5139600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:5138800-5139000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:5138800-5139200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:5138800-5140600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:5138800-5141800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:5139200-5139800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:5139400-5139600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:5140600-5140800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:5140800-5141200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:5141800-5142000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:5148800-5150000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:5149600-5150200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:5149800-5150400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:5150000-5150200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:5150200-5157400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:5154800-5155200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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