Variant report

Variant	nsv1015506
Chromosome Location	chr5:12744442-12785251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
2	chr5:12768829..12771225-chr5:12773503..12776685,3	K562	blood:
3	chr5:12753835..12756890-chr5:12758646..12760837,3	K562	blood:
4	chr5:12768829..12771225-chr5:12773503..12776685,3	K562	blood:
5	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
6	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
7	chr1:153295251..153295999-chr5:12761269..12762010,2	MCF-7	breast:
8	chr5:12743681..12745562-chr5:12760278..12762840,2	K562	blood:
9	chr5:12743681..12745562-chr5:12760278..12762840,2	K562	blood:
10	chr5:12757621..12760058-chr5:12760754..12763671,2	K562	blood:
11	chr5:12757621..12760058-chr5:12760754..12763671,2	K562	blood:
12	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
13	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
14	chr5:12753835..12756890-chr5:12758646..12760837,3	K562	blood:
15	chr5:12579463..12582015-chr5:12766907..12769227,3	K562	blood:
16	chr5:12576312..12579149-chr5:12776108..12778231,2	K562	blood:
17	chr5:12760900..12763053-chr5:12763056..12765696,2	K562	blood:
18	chr5:12760900..12763053-chr5:12763056..12765696,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-4	chr5:12759471-12759760	ENSG00000248131

No data

Variant related genes	Relation type
NIN	miRNA target sites

Extended variants
information (count: 145 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111319326	chr5:12744807-12744808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566518287	chr5:12744814-12744815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138461332	chr5:12744816-12744817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113188911	chr5:12744823-12744824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190687700	chr5:12744907-12744908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538024119	chr5:12744929-12744930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556729930	chr5:12744950-12744951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182972340	chr5:12744958-12744959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542537129	chr5:12744977-12744978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377242714	chr5:12745017-12745018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113981112	chr5:12745119-12745120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114682608	chr5:12745128-12745129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543351448	chr5:12745136-12745137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572070194	chr5:12745158-12745159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545799004	chr5:12745170-12745171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34185406	chr5:12745184-12745185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35406986	chr5:12745198-12745199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141519346	chr5:12745202-12745203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74928770	chr5:12745237-12745238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4452561	chr5:12745312-12745313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559877015	chr5:12745318-12745319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531848304	chr5:12745326-12745327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114371958	chr5:12745366-12745367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562732875	chr5:12745413-12745414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144133558	chr5:12745471-12745472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544108522	chr5:12745481-12745482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548542624	chr5:12745500-12745501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146894484	chr5:12745535-12745536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561419457	chr5:12745570-12745571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185802538	chr5:12745585-12745586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190239231	chr5:12745597-12745598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570414889	chr5:12745598-12745599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148304465	chr5:12745608-12745609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141389737	chr5:12745609-12745610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551722366	chr5:12745697-12745698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560145215	chr5:12745698-12745699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72735310	chr5:12745730-12745731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377296584	chr5:12745731-12745732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182465038	chr5:12745807-12745808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572429024	chr5:12745896-12745897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567395960	chr5:12745900-12745901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545758203	chr5:12745924-12745925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564539922	chr5:12745940-12745941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187915019	chr5:12745959-12745960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543944934	chr5:12746000-12746001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192147979	chr5:12746058-12746059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139326419	chr5:12746059-12746060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373426149	chr5:12746069-12746070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542048426	chr5:12746140-12746141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75743694	chr5:12746152-12746153	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12744800-12746200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:12745800-12746200	Enhancers	Dnd41	blood
3	chr5:12757200-12757800	Enhancers	K562	blood
4	chr5:12772000-12773200	Enhancers	K562	blood
5	chr5:12778200-12778600	Enhancers	Fetal Brain Female	brain

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