Variant report

Variant	nsv820344
Chromosome Location	chr5:178109175-178113753
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	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:

Extended variants
information (count: 154 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2086111	chr5:178109201-178109202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373102482	chr5:178109244-178109245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367836267	chr5:178109250-178109251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112369162	chr5:178109259-178109260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182868377	chr5:178109299-178109300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562509177	chr5:178109314-178109315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188332718	chr5:178109358-178109359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77223323	chr5:178109395-178109396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191226974	chr5:178109396-178109397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571198269	chr5:178109433-178109434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375422294	chr5:178109493-178109494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566677667	chr5:178109511-178109512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533787528	chr5:178109524-178109525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551959850	chr5:178109538-178109539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570301583	chr5:178109548-178109549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538793181	chr5:178109553-178109554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557151639	chr5:178109571-178109572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183788892	chr5:178109578-178109579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536265833	chr5:178109586-178109587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554903440	chr5:178109594-178109595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573588435	chr5:178109598-178109599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540918743	chr5:178109601-178109602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565526427	chr5:178109612-178109613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77271789	chr5:178109687-178109688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199807838	chr5:178109709-178109710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527659446	chr5:178109814-178109815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544330490	chr5:178109930-178109931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187720068	chr5:178109962-178109963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73334803	chr5:178109970-178109971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547877587	chr5:178109972-178109973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192325644	chr5:178109986-178109987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370153907	chr5:178110014-178110015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113912126	chr5:178110015-178110016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35128888	chr5:178110030-178110031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527618714	chr5:178110102-178110103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552047735	chr5:178110103-178110104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57859218	chr5:178110122-178110123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530955301	chr5:178110130-178110131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185687817	chr5:178110152-178110153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377655403	chr5:178110167-178110168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75531276	chr5:178110170-178110171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569273625	chr5:178110173-178110174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375127690	chr5:178110207-178110208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368046926	chr5:178110208-178110209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371904488	chr5:178110214-178110215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534524234	chr5:178110218-178110219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147120885	chr5:178110229-178110230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577577409	chr5:178110259-178110260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189877370	chr5:178110290-178110291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138473306	chr5:178110307-178110308	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178105400-178109400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:178105400-178109800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:178109400-178110800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:178109800-178110800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:178110800-178111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:178110800-178111800	Enhancers	K562	blood
10	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:178112200-178112800	Enhancers	Placenta	Placenta
14	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta
15	chr5:178113200-178115200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:178113400-178113800	Enhancers	Placenta	Placenta
17	chr5:178113400-178115000	Weak transcription	Monocytes-CD14+_RO01746	blood

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