Variant report

Variant	nsv522387
Chromosome Location	chr5:27199033-27208707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:27187232..27190139-chr5:27197303..27199539,2	MCF-7	breast:
2	chr5:27208558..27210472-chr5:27217728..27219339,2	K562	blood:
3	chr5:27208394..27210780-chr5:27216486..27219339,3	K562	blood:

Extended variants
information (count: 197 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs6879518	chr5:27199033-27199034	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371033204	chr5:27199039-27199040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568727178	chr5:27199062-27199063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376133678	chr5:27199131-27199132	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376291985	chr5:27199140-27199141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551390489	chr5:27199143-27199144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146734210	chr5:27199199-27199200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534752069	chr5:27199219-27199220	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140980479	chr5:27199230-27199231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6895202	chr5:27199236-27199237	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114167993	chr5:27199244-27199245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150229108	chr5:27199259-27199260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184629456	chr5:27199265-27199266	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188608629	chr5:27199272-27199273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375443361	chr5:27199282-27199283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539875588	chr5:27199324-27199325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571679989	chr5:27199333-27199334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561367939	chr5:27199365-27199366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542712988	chr5:27201852-27201853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561139358	chr5:27201863-27201864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181954746	chr5:27201871-27201872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375487433	chr5:27201875-27201876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539118230	chr5:27201909-27201910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571943878	chr5:27201924-27201925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185677811	chr5:27201936-27201937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190532699	chr5:27201967-27201968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565683437	chr5:27201979-27201980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181676931	chr5:27201990-27201991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554745571	chr5:27202010-27202011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569862456	chr5:27202012-27202013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186534443	chr5:27202025-27202026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547498815	chr5:27202088-27202089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558555553	chr5:27202111-27202112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374822956	chr5:27202120-27202121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78677054	chr5:27202129-27202130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534631295	chr5:27202147-27202148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149755668	chr5:27202154-27202155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554086337	chr5:27202156-27202157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112763484	chr5:27202172-27202173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572150911	chr5:27202190-27202191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7712184	chr5:27202200-27202201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561075986	chr5:27202288-27202289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12514967	chr5:27202299-27202300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576215832	chr5:27202300-27202301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543963381	chr5:27202302-27202303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143516497	chr5:27202336-27202337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191287497	chr5:27202338-27202339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547784742	chr5:27202345-27202346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182758900	chr5:27202371-27202372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559381015	chr5:27202398-27202399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27198600-27199400	Active TSS	Fetal Heart	heart
2	chr5:27201800-27205200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:27205200-27205400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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