Variant report

Variant	nsv597190
Chromosome Location	chr5:12811506-12836913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:
2	chr5:12833534..12837794-chr5:12838880..12843037,3	MCF-7	breast:
3	chr5:12832982..12835873-chr5:12839996..12843088,3	K562	blood:
4	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
5	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
6	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146654499	chr5:12826632-12826633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186450698	chr5:12826634-12826635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555698634	chr5:12826643-12826644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35169821	chr5:12826648-12826649	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541353601	chr5:12826682-12826683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552939178	chr5:12826685-12826686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532150606	chr5:12826692-12826693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140300586	chr5:12826718-12826719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550363538	chr5:12826721-12826722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145299250	chr5:12826738-12826739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190864217	chr5:12826828-12826829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561890150	chr5:12826862-12826863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138420792	chr5:12826871-12826872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547756356	chr5:12826890-12826891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141369822	chr5:12826891-12826892	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551102159	chr5:12826910-12826911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111901276	chr5:12826922-12826923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536768833	chr5:12826939-12826940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138957732	chr5:12826997-12826998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373641455	chr5:12827000-12827001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545209089	chr5:12833404-12833405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200544129	chr5:12833486-12833487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142669439	chr5:12833510-12833511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188971801	chr5:12833560-12833561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543651617	chr5:12833593-12833594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561928767	chr5:12833601-12833602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529225123	chr5:12833619-12833620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578203007	chr5:12833628-12833629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192998423	chr5:12833677-12833678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112721772	chr5:12833678-12833679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560495532	chr5:12833729-12833730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533037451	chr5:12833739-12833740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150579006	chr5:12833741-12833742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569418140	chr5:12833759-12833760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530972170	chr5:12833782-12833783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188221377	chr5:12833783-12833784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10637622	chr5:12835027-12835028	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs371578193	chr5:12835028-12835029	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs543888086	chr5:12835047-12835048	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs541620824	chr5:12835061-12835062	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs376555070	chr5:12835063-12835064	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs71188016	chr5:12835094-12835095	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs200426437	chr5:12835097-12835098	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs370863306	chr5:12835098-12835099	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs377205575	chr5:12835101-12835102	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs201440946	chr5:12835102-12835103	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs373788977	chr5:12835121-12835122	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs375125806	chr5:12835125-12835126	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs70959055	chr5:12835126-12835127	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs144168238	chr5:12835127-12835128	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12826600-12827000	Active TSS	Fetal Heart	heart
2	chr5:12833400-12833800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:12835000-12835200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:12835000-12835200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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