Variant report

Variant	esv2594056
Chromosome Location	chr5:178117764-178119662
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: 91 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564422482	chr5:178117863-178117864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576210118	chr5:178117864-178117865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369140607	chr5:178117939-178117940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543610681	chr5:178117973-178117974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572084589	chr5:178118072-178118073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112042149	chr5:178118096-178118097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557554855	chr5:178118150-178118151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182955676	chr5:178118183-178118184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564799853	chr5:178118195-178118196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144666027	chr5:178118233-178118234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560503852	chr5:178118234-178118235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527698522	chr5:178118244-178118245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552258988	chr5:178118273-178118274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571129252	chr5:178118278-178118279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138562688	chr5:178118285-178118286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568744361	chr5:178118286-178118287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111816678	chr5:178118287-178118288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13178590	chr5:178118307-178118308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13178591	chr5:178118309-178118310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs386695486	chr5:178118329-178118330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568314472	chr5:178118341-178118342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578217168	chr5:178118342-178118343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386695487	chr5:178118345-178118346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74471140	chr5:178118353-178118354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386695488	chr5:178118365-178118366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386695489	chr5:178118371-178118372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80226409	chr5:178118389-178118390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386695490	chr5:178118397-178118398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76762961	chr5:178118398-178118399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111413330	chr5:178118413-178118414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567879140	chr5:178118419-178118420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373688525	chr5:178118420-178118421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56072027	chr5:178118437-178118438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201669217	chr5:178118470-178118471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530302918	chr5:178118481-178118482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141643451	chr5:178118503-178118504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557427365	chr5:178118531-178118532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576324790	chr5:178118592-178118593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192249972	chr5:178118656-178118657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543348041	chr5:178118672-178118673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141047943	chr5:178118701-178118702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146171938	chr5:178118707-178118708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573861766	chr5:178118753-178118754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370275041	chr5:178118771-178118772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560588383	chr5:178118777-178118778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184040678	chr5:178118795-178118796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577048357	chr5:178118807-178118808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375744518	chr5:178118808-178118809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532080773	chr5:178118832-178118833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550041130	chr5:178118841-178118842	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178115400-178118000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:178118000-178122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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