Variant report

Variant	nsv598103
Chromosome Location	chr5:49499290-49538362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49522747..49523250-chr9:66823014..66823516,2	MCF-7	breast:
2	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:

Extended variants
information (count: 4177 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4177 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7707923	chr5:49499290-49499291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7707930	chr5:49499301-49499302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563903061	chr5:49499302-49499303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533087345	chr5:49499311-49499312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4865638	chr5:49499345-49499346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4866014	chr5:49499347-49499348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531731258	chr5:49499348-49499349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548242261	chr5:49499353-49499354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573190879	chr5:49499364-49499365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527753522	chr5:49499365-49499366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548034494	chr5:49499378-49499379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571034684	chr5:49499380-49499381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540170248	chr5:49499388-49499389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111270525	chr5:49499410-49499411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556807310	chr5:49499414-49499415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569595050	chr5:49499428-49499429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371955876	chr5:49499429-49499430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113127040	chr5:49499435-49499436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376776769	chr5:49499453-49499454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113698490	chr5:49499465-49499466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200430688	chr5:49499481-49499482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201208525	chr5:49499501-49499502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112128418	chr5:49499505-49499506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140455856	chr5:49499508-49499509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555020484	chr5:49499516-49499517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146153869	chr5:49499521-49499522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76156410	chr5:49499526-49499527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150516727	chr5:49499528-49499529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76996887	chr5:49499529-49499530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185777120	chr5:49499533-49499534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571821389	chr5:49499534-49499535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142339088	chr5:49499535-49499536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78137430	chr5:49499536-49499537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141479565	chr5:49499546-49499547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557567265	chr5:49499547-49499548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76497264	chr5:49499550-49499551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148912363	chr5:49499552-49499553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138568660	chr5:49499559-49499560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144835308	chr5:49499562-49499563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144707466	chr5:49499563-49499564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145038946	chr5:49499568-49499569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145344485	chr5:49499576-49499577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138314316	chr5:49499578-49499579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77843453	chr5:49499581-49499582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577406865	chr5:49499600-49499601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543399069	chr5:49499602-49499603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563606240	chr5:49499607-49499608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78093793	chr5:49499609-49499610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573815702	chr5:49499613-49499614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147472203	chr5:49499628-49499629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:49490200-49514600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49495800-49517800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:49497600-49502000	Weak transcription	NH-A	brain
5	chr5:49501600-49502400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr5:49501800-49502400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr5:49501800-49502800	Enhancers	Dnd41	blood
8	chr5:49502000-49502200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
9	chr5:49502000-49502200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:49502000-49502200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
11	chr5:49502000-49502200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:49502000-49502200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
13	chr5:49502000-49502200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:49502000-49502200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:49502000-49502200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:49502000-49502200	ZNF genes & repeats	Brain Substantia Nigra	brain
17	chr5:49502000-49502200	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr5:49502000-49502200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr5:49502000-49502200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
20	chr5:49502000-49502200	ZNF genes & repeats	HUVEC	blood vessel
21	chr5:49502000-49502200	ZNF genes & repeats	NH-A	brain
22	chr5:49502000-49502200	Active TSS	NHEK	skin
23	chr5:49502000-49502400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:49502000-49502400	ZNF genes & repeats	Liver	Liver
25	chr5:49502400-49502600	Weak transcription	NH-A	brain
26	chr5:49505600-49514600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr5:49507000-49511000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr5:49507200-49508200	ZNF genes & repeats	Liver	Liver
29	chr5:49510000-49513600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:49510800-49511600	Enhancers	Dnd41	blood
31	chr5:49511600-49512000	ZNF genes & repeats	HUVEC	blood vessel
32	chr5:49512400-49516400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:49513200-49514200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:49513200-49514200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:49513200-49514400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr5:49513400-49513800	Active TSS	Psoas Muscle	Psoas
37	chr5:49513400-49514000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr5:49513400-49514000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:49513400-49514000	ZNF genes & repeats	Left Ventricle	heart
40	chr5:49513400-49515000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr5:49513400-49515400	ZNF genes & repeats	Liver	Liver
42	chr5:49513600-49513800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr5:49513600-49513800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:49513600-49513800	Active TSS	Aorta	Aorta
45	chr5:49513600-49514000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr5:49513600-49514000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:49513600-49514000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:49513600-49514000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr5:49513600-49514000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:49513600-49514000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood

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