Variant report

Variant	nsv522521
Chromosome Location	chr5:12163379-12174985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12165801..12168433-chr5:12169340..12171868,2	MCF-7	breast:
2	chr5:12165801..12168433-chr5:12169340..12171868,2	MCF-7	breast:
3	chr5:12174934..12177905-chr5:12178923..12181158,2	MCF-7	breast:
4	chr5:12163951..12166758-chr5:12177328..12180114,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544348752	chr5:12170025-12170026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369450905	chr5:12170053-12170054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576286782	chr5:12170063-12170064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73744298	chr5:12170161-12170162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561915943	chr5:12170193-12170194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529423042	chr5:12170196-12170197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139909136	chr5:12170241-12170242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180778662	chr5:12170245-12170246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563013444	chr5:12170291-12170292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533299754	chr5:12170343-12170344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527293410	chr5:12170379-12170380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552112954	chr5:12170411-12170412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368342022	chr5:12170431-12170432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570775896	chr5:12170447-12170448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143418870	chr5:12170464-12170465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372037757	chr5:12170465-12170466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34807623	chr5:12170475-12170476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550077803	chr5:12170540-12170541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10474680	chr5:12170561-12170562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs5865991	chr5:12172406-12172407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75384175	chr5:12172407-12172408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561638271	chr5:12172442-12172443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143208393	chr5:12172502-12172503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552391669	chr5:12172510-12172511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370568904	chr5:12172514-12172515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541348196	chr5:12172611-12172612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190838274	chr5:12172627-12172628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147076693	chr5:12172656-12172657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35170305	chr5:12172683-12172684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533157794	chr5:12172698-12172699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551123272	chr5:12172706-12172707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16902057	chr5:12172728-12172729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530887556	chr5:12172852-12172853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549044513	chr5:12172856-12172857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567686229	chr5:12172880-12172881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528467655	chr5:12172929-12172930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547317468	chr5:12172936-12172937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571799920	chr5:12172986-12172987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182649687	chr5:12172991-12172992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138485047	chr5:12173032-12173033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569788520	chr5:12173127-12173128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537169179	chr5:12173183-12173184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555151722	chr5:12173196-12173197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573620837	chr5:12173201-12173202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373528677	chr5:12173215-12173216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144061724	chr5:12173224-12173225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553243452	chr5:12173244-12173245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188794140	chr5:12173263-12173264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193250722	chr5:12173297-12173298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563172777	chr5:12173362-12173363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12170000-12170600	Enhancers	Fetal Brain Female	brain
2	chr5:12172400-12172600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:12172400-12176800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:12172600-12174400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:12173400-12173600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:12173600-12175000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:12173600-12175600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:12173600-12176600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:12173600-12177000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:12174000-12174200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:12174000-12175600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:12174000-12176400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:12174000-12177000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:12174200-12176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:12174200-12176400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:12174200-12177000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:12174400-12174800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:12174800-12175600	Enhancers	HUES48 Cell Line	embryonic stem cell

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