Variant report

Variant	nsv1025965
Chromosome Location	chr5:17780459-17799400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
2	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
3	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:

Extended variants
information (count: 383 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542033793	chr5:17783448-17783449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561994464	chr5:17783469-17783470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527583369	chr5:17783510-17783511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35316372	chr5:17783595-17783596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34608011	chr5:17783597-17783598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546655663	chr5:17783641-17783642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs41420449	chr5:17783686-17783687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533270093	chr5:17783691-17783692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377563348	chr5:17783732-17783733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201792049	chr5:17783736-17783737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200337505	chr5:17783737-17783738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528883622	chr5:17783800-17783801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369467237	chr5:17783841-17783842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535680725	chr5:17783888-17783889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575654095	chr5:17783894-17783895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191255889	chr5:17783899-17783900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539166906	chr5:17783968-17783969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138645727	chr5:17784010-17784011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566071881	chr5:17784011-17784012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75469289	chr5:17784060-17784061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77899940	chr5:17784061-17784062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115306877	chr5:17784179-17784180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367747126	chr5:17784215-17784216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553490142	chr5:17784218-17784219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140636144	chr5:17784225-17784226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10941533	chr5:17784226-17784227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs570366168	chr5:17784274-17784275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537699024	chr5:17784284-17784285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558900861	chr5:17784330-17784331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184143106	chr5:17784359-17784360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13354648	chr5:17784390-17784391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368237696	chr5:17784401-17784402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542095243	chr5:17784489-17784490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561857277	chr5:17784517-17784518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113689795	chr5:17784519-17784520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541275077	chr5:17784523-17784524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564347185	chr5:17784524-17784525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10941538	chr5:17784552-17784553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574730119	chr5:17784603-17784604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6875052	chr5:17784625-17784626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563487019	chr5:17784628-17784629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181049635	chr5:17784643-17784644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549173412	chr5:17784684-17784685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565887067	chr5:17784702-17784703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528802624	chr5:17784721-17784722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552014492	chr5:17784748-17784749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7708009	chr5:17784779-17784780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184385012	chr5:17784797-17784798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12186689	chr5:17784814-17784815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7719217	chr5:17784820-17784821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17783400-17787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:17785800-17786000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:17785800-17786200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:17785800-17786200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:17785800-17786200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:17785800-17786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:17785800-17786200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:17785800-17786400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:17785800-17786400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:17785800-17786400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:17786000-17786200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:17786800-17787200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
13	chr5:17787200-17787800	Enhancers	Fetal Lung	lung
14	chr5:17787400-17787600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:17790000-17790600	Enhancers	Fetal Brain Male	brain
16	chr5:17794200-17795600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:17794400-17794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:17794400-17795400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:17795000-17795200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:17796200-17797800	Enhancers	Hela-S3	cervix
21	chr5:17796400-17796600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:17796400-17796600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:17796400-17796600	Enhancers	Lung	lung
24	chr5:17796400-17796600	Enhancers	Spleen	Spleen
25	chr5:17796400-17797200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:17796400-17797400	Enhancers	A549	lung
27	chr5:17796400-17797600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:17796400-17797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:17796400-17797600	Enhancers	NHEK	skin
30	chr5:17796400-17797800	Enhancers	HMEC	breast
31	chr5:17796600-17801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:17796800-17797800	Enhancers	HUVEC	blood vessel
33	chr5:17797400-17797800	Flanking Active TSS	A549	lung
34	chr5:17797600-17802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:17797800-17798200	Enhancers	A549	lung
36	chr5:17797800-17804000	Weak transcription	HMEC	breast
37	chr5:17798200-17801800	Weak transcription	A549	lung
38	chr5:17799400-17799800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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