Variant report

Variant	esv3471131
Chromosome Location	chr5:178116546-178121044
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: 214 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs373643694	chr5:178116557-178116558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567180042	chr5:178116565-178116566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534486516	chr5:178116568-178116569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116967068	chr5:178116577-178116578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76486454	chr5:178116603-178116604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201212413	chr5:178116623-178116624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151042217	chr5:178116634-178116635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556237349	chr5:178116650-178116651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574168445	chr5:178116805-178116806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55713627	chr5:178116840-178116841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559681102	chr5:178116895-178116896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572051693	chr5:178116957-178116958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114472548	chr5:178116962-178116963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564154987	chr5:178117073-178117074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141079737	chr5:178117105-178117106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10058283	chr5:178117120-178117121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs372604024	chr5:178117121-178117122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549676194	chr5:178117131-178117132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35877555	chr5:178117139-178117140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185531742	chr5:178117230-178117231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150280103	chr5:178117271-178117272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190718607	chr5:178117282-178117283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57469771	chr5:178117313-178117314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35304929	chr5:178117363-178117364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537400530	chr5:178117439-178117440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138881704	chr5:178117440-178117441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571021284	chr5:178117445-178117446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34412884	chr5:178117482-178117483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556436851	chr5:178117485-178117486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574207496	chr5:178117491-178117492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535170742	chr5:178117600-178117601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7719405	chr5:178117620-178117621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs571685864	chr5:178117629-178117630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569237145	chr5:178117699-178117700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148993554	chr5:178117740-178117741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199640181	chr5:178117742-178117743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564422482	chr5:178117863-178117864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576210118	chr5:178117864-178117865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369140607	chr5:178117939-178117940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543610681	chr5:178117973-178117974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572084589	chr5:178118072-178118073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112042149	chr5:178118096-178118097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557554855	chr5:178118150-178118151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182955676	chr5:178118183-178118184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564799853	chr5:178118195-178118196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144666027	chr5:178118233-178118234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560503852	chr5:178118234-178118235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527698522	chr5:178118244-178118245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552258988	chr5:178118273-178118274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571129252	chr5:178118278-178118279	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178115400-178117200	Enhancers	HMEC	breast
2	chr5:178115400-178118000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:178116000-178117200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:178116400-178117000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:178118000-178122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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