Variant report

Variant	esv3375509
Chromosome Location	chr5:178108146-178114494
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: 243 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71611457	chr5:178108151-178108152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554791413	chr5:178108164-178108165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191219778	chr5:178108189-178108190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541157271	chr5:178108260-178108261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539443832	chr5:178108262-178108263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377180727	chr5:178108270-178108271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577683996	chr5:178108271-178108272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545020653	chr5:178108303-178108304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183004820	chr5:178108310-178108311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531243991	chr5:178108322-178108323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542940920	chr5:178108327-178108328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150428823	chr5:178108332-178108333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188215007	chr5:178108363-178108364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556558330	chr5:178108377-178108378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563289052	chr5:178108385-178108386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571387366	chr5:178108430-178108431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528938437	chr5:178108437-178108438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111934286	chr5:178108516-178108517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386695483	chr5:178108529-178108530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112760625	chr5:178108532-178108533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73332901	chr5:178108540-178108541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560716317	chr5:178108609-178108610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80200691	chr5:178108653-178108654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536598273	chr5:178108693-178108694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548168508	chr5:178108697-178108698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377485510	chr5:178108701-178108702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376481809	chr5:178108707-178108708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548713986	chr5:178108715-178108716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200737691	chr5:178108747-178108748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112999810	chr5:178108756-178108757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145287453	chr5:178108764-178108765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569526804	chr5:178108803-178108804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558299634	chr5:178108877-178108878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368575231	chr5:178108887-178108888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577716929	chr5:178108907-178108908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149168042	chr5:178108930-178108931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77469985	chr5:178108978-178108979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557364061	chr5:178108993-178108994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113362750	chr5:178109059-178109060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191895022	chr5:178109080-178109081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143222013	chr5:178109081-178109082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111244990	chr5:178109162-178109163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573544061	chr5:178109166-178109167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2086111	chr5:178109201-178109202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373102482	chr5:178109244-178109245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367836267	chr5:178109250-178109251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112369162	chr5:178109259-178109260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182868377	chr5:178109299-178109300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562509177	chr5:178109314-178109315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188332718	chr5:178109358-178109359	Weak transcription	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	chr5:178105400-178109400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:178105400-178109800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:178108600-178108800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:178109400-178110800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:178109800-178110800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:178110800-178111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:178110800-178111800	Enhancers	K562	blood
11	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:178112200-178112800	Enhancers	Placenta	Placenta
15	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta
16	chr5:178113200-178115200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:178113400-178113800	Enhancers	Placenta	Placenta
18	chr5:178113400-178115000	Weak transcription	Monocytes-CD14+_RO01746	blood

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