Variant report

Variant	esv3422423
Chromosome Location	chr5:177522571-177525319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177516313..177518533-chr5:177518658..177522708,4	MCF-7	breast:
2	chr5:177503413..177514913-chr5:177516551..177522941,24	MCF-7	breast:
3	chr5:177509207..177514197-chr5:177523151..177527432,6	MCF-7	breast:
4	chr5:177519806..177521961-chr5:177524247..177526841,2	K562	blood:

Extended variants
information (count: 231 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs113904673	chr5:177522577-177522578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113239347	chr5:177522584-177522585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113002489	chr5:177522592-177522593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557529837	chr5:177522602-177522603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373272948	chr5:177522603-177522604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377462337	chr5:177522606-177522607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532804154	chr5:177522609-177522610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551370001	chr5:177522620-177522621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569956990	chr5:177522621-177522622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530586280	chr5:177522635-177522636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371120230	chr5:177522638-177522639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373508883	chr5:177522645-177522646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113340822	chr5:177522655-177522656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375582343	chr5:177522663-177522664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370179131	chr5:177522664-177522665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535163516	chr5:177522670-177522671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374717333	chr5:177522683-177522684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368208571	chr5:177522688-177522689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371098852	chr5:177522706-177522707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374381717	chr5:177522726-177522727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368548739	chr5:177522731-177522732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568521470	chr5:177522750-177522751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372631000	chr5:177522769-177522770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377239989	chr5:177522774-177522775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367569692	chr5:177522778-177522779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75512321	chr5:177522807-177522808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376116646	chr5:177522812-177522813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369369450	chr5:177522817-177522818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373594104	chr5:177522824-177522825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375451751	chr5:177522835-177522836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369543308	chr5:177522850-177522851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373308727	chr5:177522855-177522856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376530917	chr5:177522860-177522861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370140593	chr5:177522878-177522879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372681913	chr5:177522893-177522894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377154462	chr5:177522898-177522899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370410620	chr5:177522903-177522904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374835028	chr5:177522907-177522908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554348836	chr5:177522922-177522923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566066674	chr5:177522926-177522927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368151581	chr5:177522941-177522942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371966299	chr5:177522946-177522947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200201683	chr5:177522964-177522965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376073767	chr5:177522971-177522972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368652261	chr5:177522979-177522980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371729430	chr5:177522984-177522985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373781571	chr5:177522989-177522990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367749461	chr5:177522996-177522997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371568000	chr5:177523007-177523008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557725834	chr5:177523008-177523009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177513600-177526400	Weak transcription	Gastric	stomach
2	chr5:177524600-177524800	Enhancers	Esophagus	oesophagus
3	chr5:177524800-177527800	Weak transcription	Esophagus	oesophagus

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