Variant report

Variant	nsv600451
Chromosome Location	chr5:178112451-178120334
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	chr5:178119500..178121494-chr5:178122164..178124985,2	MCF-7	breast:

Extended variants
information (count: 363 )
Associated
traits (count: 101 )

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	rs183806578	chr5:178112471-178112472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372125716	chr5:178112523-178112524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547594298	chr5:178112532-178112533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561494913	chr5:178112575-178112576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541874606	chr5:178112601-178112602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565931378	chr5:178112679-178112680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539174877	chr5:178112682-178112683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557817368	chr5:178112715-178112716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576020552	chr5:178112729-178112730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537070183	chr5:178112739-178112740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562366082	chr5:178112775-178112776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573886943	chr5:178112794-178112795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187901435	chr5:178112809-178112810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148453759	chr5:178112880-178112881	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142595945	chr5:178112936-178112937	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535146921	chr5:178112978-178112979	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190256249	chr5:178112999-178113000	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs6864012	chr5:178113016-178113017	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182549884	chr5:178113044-178113045	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150988944	chr5:178113165-178113166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547968243	chr5:178113259-178113260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374620732	chr5:178113290-178113291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559004106	chr5:178113352-178113353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547663087	chr5:178113381-178113382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565966989	chr5:178113393-178113394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374305519	chr5:178113404-178113405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533363247	chr5:178113432-178113433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374248955	chr5:178113438-178113439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57367224	chr5:178113458-178113459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113378656	chr5:178113512-178113513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111309141	chr5:178113523-178113524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550957727	chr5:178113543-178113544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543969415	chr5:178113644-178113645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111782072	chr5:178113645-178113646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555379234	chr5:178113667-178113668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373096321	chr5:178113679-178113680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567269912	chr5:178113743-178113744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555145537	chr5:178113836-178113837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565800536	chr5:178113838-178113839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191366055	chr5:178113844-178113845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185421113	chr5:178113845-178113846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534313319	chr5:178113850-178113851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111517265	chr5:178113877-178113878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs370824139	chr5:178113889-178113890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550516715	chr5:178113895-178113896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374797111	chr5:178113923-178113924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557780314	chr5:178113935-178113936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189188777	chr5:178113936-178113937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578238174	chr5:178113940-178113941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373086318	chr5:178113945-178113946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:178112200-178112800	Enhancers	Placenta	Placenta
5	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta
6	chr5:178113200-178115200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:178113400-178113800	Enhancers	Placenta	Placenta
8	chr5:178113400-178115000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:178115000-178115400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:178115200-178116400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:178115400-178116000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:178115400-178116200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:178115400-178116400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:178115400-178117200	Enhancers	HMEC	breast
15	chr5:178115400-178118000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:178116000-178117200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:178116400-178117000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:178118000-178122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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