Variant report

Variant	nsv598084
Chromosome Location	chr5:46348483-46363476
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	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:

Extended variants
information (count: 1890 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1890 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10941803	chr5:46348483-46348484	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79449127	chr5:46348491-46348492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74480563	chr5:46348510-46348511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369027524	chr5:46348528-46348529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575738639	chr5:46348551-46348552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74329056	chr5:46348556-46348557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75240605	chr5:46348557-46348558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191133615	chr5:46348585-46348586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552546175	chr5:46348592-46348593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183927915	chr5:46348604-46348605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34028103	chr5:46348613-46348614	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200608806	chr5:46348614-46348615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574827928	chr5:46348615-46348616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540477793	chr5:46348626-46348627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560775497	chr5:46348635-46348636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188477153	chr5:46348639-46348640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372467905	chr5:46348648-46348649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577362876	chr5:46348651-46348652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546116811	chr5:46348677-46348678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544958340	chr5:46348678-46348679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192997171	chr5:46348695-46348696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560783923	chr5:46348697-46348698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113333012	chr5:46348706-46348707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531221727	chr5:46348724-46348725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563526414	chr5:46348731-46348732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183457017	chr5:46348740-46348741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561633027	chr5:46348744-46348745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375615797	chr5:46348747-46348748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368357164	chr5:46348754-46348755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs372578626	chr5:46348758-46348759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs116351775	chr5:46348764-46348765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570675487	chr5:46348768-46348769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539237495	chr5:46348769-46348770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550136179	chr5:46348774-46348775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs185950169	chr5:46348787-46348788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183204742	chr5:46348792-46348793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569933642	chr5:46348810-46348811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199503839	chr5:46348813-46348814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538244346	chr5:46348820-46348821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187279871	chr5:46348825-46348826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377136288	chr5:46348847-46348848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534349036	chr5:46348856-46348857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553952294	chr5:46348857-46348858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543118343	chr5:46348870-46348871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78614631	chr5:46348873-46348874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76539090	chr5:46348878-46348879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75923765	chr5:46348883-46348884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77395490	chr5:46348899-46348900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79928505	chr5:46348900-46348901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75573071	chr5:46348902-46348903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46343200-46371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46343400-46370200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:46344200-46371400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46345400-46356200	Weak transcription	K562	blood
5	chr5:46347600-46350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:46350000-46350200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:46351600-46368400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr5:46352200-46353000	ZNF genes & repeats	HUVEC	blood vessel
9	chr5:46353400-46353600	ZNF genes & repeats	Liver	Liver
10	chr5:46354200-46354600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr5:46355000-46356600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:46355200-46367800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr5:46355600-46356800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr5:46355800-46356800	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr5:46356000-46356800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:46356000-46357000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr5:46356000-46357000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr5:46356000-46357200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr5:46356200-46356800	ZNF genes & repeats	K562	blood
20	chr5:46356200-46357000	ZNF genes & repeats	Liver	Liver
21	chr5:46356200-46360000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:46356200-46365000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr5:46356400-46356600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:46356400-46356600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr5:46356400-46356600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
26	chr5:46356400-46356600	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr5:46356400-46356600	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr5:46356400-46356600	ZNF genes & repeats	Left Ventricle	heart
29	chr5:46356400-46356800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:46356400-46356800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr5:46356400-46356800	Active TSS	Aorta	Aorta
32	chr5:46356400-46356800	ZNF genes & repeats	Gastric	stomach
33	chr5:46356400-46356800	Active TSS	Psoas Muscle	Psoas
34	chr5:46356400-46356800	ZNF genes & repeats	HUVEC	blood vessel
35	chr5:46356400-46356800	ZNF genes & repeats	NH-A	brain
36	chr5:46356600-46359400	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:46356800-46357800	Weak transcription	HUVEC	blood vessel
38	chr5:46356800-46358400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:46356800-46359400	Weak transcription	K562	blood
40	chr5:46357000-46359200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:46357800-46358200	ZNF genes & repeats	Liver	Liver
42	chr5:46357800-46358200	ZNF genes & repeats	HUVEC	blood vessel
43	chr5:46358200-46359400	Weak transcription	HUVEC	blood vessel
44	chr5:46358200-46360000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:46359000-46361400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr5:46359200-46360000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr5:46359200-46360200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
48	chr5:46359200-46360400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr5:46359200-46364800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr5:46359400-46359600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood

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