Variant report

Variant	nsv1024473
Chromosome Location	chr8:5070142-5089101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 422 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184214287	chr8:5070149-5070150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10435675	chr8:5070173-5070174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564308410	chr8:5070182-5070183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531967495	chr8:5070183-5070184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189532841	chr8:5070203-5070204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553745097	chr8:5070223-5070224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74821080	chr8:5070224-5070225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550519265	chr8:5070234-5070235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562323487	chr8:5070244-5070245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181161721	chr8:5070258-5070259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138262677	chr8:5070260-5070261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565812752	chr8:5070265-5070266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73602190	chr8:5070277-5070278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539136461	chr8:5070279-5070280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551387094	chr8:5070311-5070312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4490861	chr8:5070350-5070351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186607621	chr8:5070362-5070363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536621911	chr8:5070364-5070365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555245294	chr8:5070372-5070373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573557180	chr8:5070384-5070385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4567061	chr8:5070385-5070386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535864703	chr8:5070397-5070398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149647704	chr8:5070452-5070453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144388117	chr8:5070458-5070459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545996982	chr8:5070516-5070517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374683798	chr8:5070535-5070536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564578973	chr8:5070601-5070602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112501269	chr8:5070616-5070617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543800991	chr8:5070625-5070626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190321601	chr8:5070708-5070709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4400406	chr8:5070710-5070711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146334315	chr8:5070740-5070741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181552182	chr8:5070743-5070744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559673332	chr8:5070751-5070752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537389699	chr8:5070765-5070766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114493635	chr8:5070775-5070776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550884548	chr8:5070778-5070779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4446757	chr8:5070787-5070788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139592829	chr8:5070798-5070799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368593765	chr8:5070839-5070840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113533654	chr8:5070851-5070852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116550205	chr8:5070856-5070857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534589818	chr8:5070875-5070876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533561653	chr8:5070892-5070893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373226282	chr8:5070893-5070894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4430122	chr8:5070943-5070944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150993518	chr8:5070949-5070950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534766469	chr8:5070972-5070973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139559637	chr8:5070995-5070996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557982234	chr8:5070996-5070997	Weak transcription 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
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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5070000-5070200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:5070000-5070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:5070000-5070600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:5070000-5071200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:5070200-5071000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:5070200-5071000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:5071000-5071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:5073400-5073800	Active TSS	Spleen	Spleen
9	chr8:5082000-5082200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:5082400-5083200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:5082800-5083000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:5085000-5085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:5087000-5089000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:5087600-5087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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