Variant report

Variant	nsv537665
Chromosome Location	chr5:12387752-12521009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12474522..12476679-chr5:12488826..12490778,2	MCF-7	breast:
2	chr5:12474403..12476609-chr5:12481266..12483137,2	MCF-7	breast:
3	chr5:12387214..12389334-chr5:12391779..12393632,2	K562	blood:
4	chr5:12474522..12476679-chr5:12488826..12490778,2	MCF-7	breast:
5	chr5:12387214..12389334-chr5:12391779..12393632,2	K562	blood:
6	chr5:12474403..12476609-chr5:12481266..12483137,2	MCF-7	breast:

Extended variants
information (count: 1551 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559431843	chr5:12387754-12387755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532952257	chr5:12387764-12387765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551042729	chr5:12387774-12387775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148174624	chr5:12387777-12387778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141986754	chr5:12387781-12387782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549180224	chr5:12387782-12387783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578119559	chr5:12392642-12392643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530405945	chr5:12392646-12392647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545223044	chr5:12392669-12392670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554929451	chr5:12392740-12392741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188897352	chr5:12392794-12392795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531279733	chr5:12392807-12392808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6554700	chr5:12392815-12392816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527603199	chr5:12392818-12392819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566728419	chr5:12392891-12392892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78620154	chr5:12392963-12392964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547711321	chr5:12392983-12392984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565935377	chr5:12393000-12393001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs70959019	chr5:12399607-12399608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs61628479	chr5:12399608-12399609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557904103	chr5:12399627-12399628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576178886	chr5:12399661-12399662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375624563	chr5:12399680-12399681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191264290	chr5:12399708-12399709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149054410	chr5:12399771-12399772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529231001	chr5:12399776-12399777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540966492	chr5:12399846-12399847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115298375	chr5:12399847-12399848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532989371	chr5:12399904-12399905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528451041	chr5:12399906-12399907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142388979	chr5:12399926-12399927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551125142	chr5:12399929-12399930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559361357	chr5:12399933-12399934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573480721	chr5:12399953-12399954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199907348	chr5:12399954-12399955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148311453	chr5:12399970-12399971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142417665	chr5:12400016-12400017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13155688	chr5:12400040-12400041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs151292565	chr5:12400053-12400054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567312254	chr5:12400083-12400084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34760286	chr5:12400270-12400271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553393803	chr5:12400286-12400287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200420451	chr5:12400299-12400300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571876443	chr5:12400303-12400304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538885025	chr5:12400310-12400311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183064268	chr5:12400317-12400318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75530870	chr5:12400322-12400323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75120565	chr5:12400323-12400324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141871813	chr5:12400375-12400376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143588536	chr5:12400397-12400398	Enhancers	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
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	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12387200-12387800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:12387400-12387800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:12392600-12393000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:12399600-12400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:12399600-12400600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:12400000-12400400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:12400000-12401000	Enhancers	HMEC	breast
8	chr5:12411400-12413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:12412400-12412600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:12413000-12413800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:12413000-12414200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:12413000-12414600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:12413200-12413600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:12413200-12414000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:12413200-12414200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:12413200-12414200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:12413200-12414600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:12413200-12414800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:12413400-12414600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:12413600-12416000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:12414600-12415800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:12414800-12417800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:12416000-12416200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:12416200-12416400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:12421400-12421800	Active TSS	Fetal Heart	heart
26	chr5:12433400-12433800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:12438800-12439400	Enhancers	Liver	Liver
28	chr5:12459200-12460000	Enhancers	Fetal Brain Female	brain
29	chr5:12460200-12461400	Enhancers	HMEC	breast
30	chr5:12462000-12469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:12488200-12488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:12488200-12488600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:12501600-12505600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:12503400-12504600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr5:12504000-12505000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:12504200-12505000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:12504200-12507000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:12504400-12506200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:12504600-12505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:12504600-12507400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:12505000-12505200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr5:12505000-12505200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr5:12505000-12506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:12505200-12505400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:12505200-12505400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:12505400-12505600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:12505400-12505800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr5:12505600-12505800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:12505600-12506400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:12505800-12506000	Enhancers	H9 Cell Line	embryonic stem cell

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