Variant report

Variant	nsv880360
Chromosome Location	chr5:17715854-17767272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
2	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
3	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
4	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:

Extended variants
information (count: 1072 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558759100	chr5:17719813-17719814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145504579	chr5:17719820-17719821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183129445	chr5:17719824-17719825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6865140	chr5:17719837-17719838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113093573	chr5:17719869-17719870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574819974	chr5:17719875-17719876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147064982	chr5:17719904-17719905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77582239	chr5:17719960-17719961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529148503	chr5:17719994-17719995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138350676	chr5:17720033-17720034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571175427	chr5:17720053-17720054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372999700	chr5:17720060-17720061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546008492	chr5:17720107-17720108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535037523	chr5:17720108-17720109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187677175	chr5:17720131-17720132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192651251	chr5:17720174-17720175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184906808	chr5:17720224-17720225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141847538	chr5:17720238-17720239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11739228	chr5:17720239-17720240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188219100	chr5:17720242-17720243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10053275	chr5:17720273-17720274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566743447	chr5:17720277-17720278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4389721	chr5:17720338-17720339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558792412	chr5:17720348-17720349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373680300	chr5:17720352-17720353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569111116	chr5:17720363-17720364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75740020	chr5:17720375-17720376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376932490	chr5:17720458-17720459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574629014	chr5:17720496-17720497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73757524	chr5:17720509-17720510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79528392	chr5:17720533-17720534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576935658	chr5:17720636-17720637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372549298	chr5:17720643-17720644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374392744	chr5:17720664-17720665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6886916	chr5:17720673-17720674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4373310	chr5:17720771-17720772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531961979	chr5:17720792-17720793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574049786	chr5:17720794-17720795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538293025	chr5:17720840-17720841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569340320	chr5:17720848-17720849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369293702	chr5:17720873-17720874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73757525	chr5:17720948-17720949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138699893	chr5:17720971-17720972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111287192	chr5:17720972-17720973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552879419	chr5:17726800-17726801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187589208	chr5:17726831-17726832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192063487	chr5:17726901-17726902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550278225	chr5:17726925-17726926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185720784	chr5:17727002-17727003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372832245	chr5:17727008-17727009	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17719800-17720200	Enhancers	Brain Germinal Matrix	brain
2	chr5:17719800-17720400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:17719800-17720800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:17719800-17721000	Enhancers	Fetal Lung	lung
5	chr5:17720000-17720400	Enhancers	Fetal Stomach	stomach
6	chr5:17720200-17721000	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:17726800-17728200	Enhancers	Hela-S3	cervix
8	chr5:17727200-17727800	Enhancers	Brain Germinal Matrix	brain
9	chr5:17728200-17732000	Weak transcription	Hela-S3	cervix
10	chr5:17731600-17733400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:17732000-17733000	Enhancers	Hela-S3	cervix
12	chr5:17733400-17738000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:17733600-17734600	Enhancers	Fetal Lung	lung
14	chr5:17735400-17736800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:17736800-17739600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:17738000-17739600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:17738400-17739200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:17738600-17739000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:17739600-17740400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:17743200-17743600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:17743200-17743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:17743200-17743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:17743400-17743600	Enhancers	NH-A	brain
24	chr5:17743400-17743800	Enhancers	Aorta	Aorta
25	chr5:17743400-17743800	Enhancers	Osteobl	bone
26	chr5:17743400-17744200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:17743400-17744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:17743600-17743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:17743600-17743800	Enhancers	A549	lung
30	chr5:17743600-17744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:17743600-17744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:17743600-17744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:17743600-17744600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:17743600-17744600	Enhancers	Hela-S3	cervix
35	chr5:17743600-17744600	Flanking Active TSS	NH-A	brain
36	chr5:17743800-17744000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:17743800-17744000	Active TSS	Aorta	Aorta
38	chr5:17743800-17744000	Flanking Active TSS	Osteobl	bone
39	chr5:17743800-17744200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:17743800-17744400	Flanking Active TSS	A549	lung
41	chr5:17744000-17744200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:17744000-17744200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:17744000-17744200	Flanking Active TSS	Aorta	Aorta
44	chr5:17744000-17744600	Active TSS	Osteobl	bone
45	chr5:17744200-17744400	Active TSS	Aorta	Aorta
46	chr5:17744200-17744600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:17744200-17744600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:17744400-17745000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:17744400-17748400	Weak transcription	A549	lung
50	chr5:17744600-17745000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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