Variant report

Variant	nsv598099
Chromosome Location	chr5:49479708-49549410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:27733264..27735341-chr5:49544077..49545577,2	MCF-7	breast:
2	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:
3	chr5:49522747..49523250-chr9:66823014..66823516,2	MCF-7	breast:

Extended variants
information (count: 7352 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:7352 , 50 per page) page: 1 2 3 4 5 6 7 ... 148

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12521333	chr5:49479708-49479709	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35907194	chr5:49479715-49479716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12518474	chr5:49479716-49479717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs34211923	chr5:49479717-49479718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537410799	chr5:49479718-49479719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115261946	chr5:49479732-49479733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368885271	chr5:49479733-49479734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574162384	chr5:49479762-49479763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs536894555	chr5:49479765-49479766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113738648	chr5:49479769-49479770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201450557	chr5:49479773-49479774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530953871	chr5:49479796-49479797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112448401	chr5:49479799-49479800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549081841	chr5:49479803-49479804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545706015	chr5:49479804-49479805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113870401	chr5:49479814-49479815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565404619	chr5:49479817-49479818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372948150	chr5:49479818-49479819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs377166491	chr5:49479819-49479820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560695495	chr5:49479835-49479836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529730468	chr5:49479853-49479854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199836686	chr5:49479854-49479855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539905264	chr5:49479864-49479865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200494677	chr5:49479868-49479869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560295934	chr5:49479889-49479890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532182617	chr5:49479903-49479904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201928537	chr5:49479907-49479908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12520167	chr5:49479911-49479912	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs200966793	chr5:49479917-49479918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35691402	chr5:49479929-49479930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200164571	chr5:49479936-49479937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201892270	chr5:49479940-49479941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs530958386	chr5:49479959-49479960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550992668	chr5:49479978-49479979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113218768	chr5:49479980-49479981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536760052	chr5:49479993-49479994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs143269378	chr5:49479994-49479995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567068586	chr5:49480000-49480001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs559043077	chr5:49480001-49480002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112188731	chr5:49480005-49480006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200877633	chr5:49480007-49480008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201562710	chr5:49480027-49480028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200095537	chr5:49480035-49480036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62386360	chr5:49480041-49480042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373508016	chr5:49480059-49480060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200746797	chr5:49480064-49480065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111264848	chr5:49480072-49480073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs546878219	chr5:49480079-49480080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559229608	chr5:49480081-49480082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111750093	chr5:49480148-49480149	ZNF genes & repeats	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:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:49471000-49486200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:49477000-49482400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr5:49481000-49481400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:49481200-49486200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr5:49481400-49482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:49482200-49482600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:49482200-49482600	ZNF genes & repeats	HUVEC	blood vessel
11	chr5:49482200-49482600	ZNF genes & repeats	NH-A	brain
12	chr5:49483600-49485200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr5:49484200-49485200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr5:49484600-49485000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:49484600-49485000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:49484600-49485000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:49484600-49485000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:49484600-49485000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:49484600-49485000	ZNF genes & repeats	Fetal Heart	heart
20	chr5:49484800-49485000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr5:49484800-49485000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:49484800-49485000	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr5:49484800-49485000	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr5:49484800-49485000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr5:49484800-49485000	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr5:49484800-49485000	ZNF genes & repeats	NH-A	brain
31	chr5:49485000-49488400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:49486600-49491000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:49487400-49497600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr5:49488400-49488600	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr5:49488400-49488800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
36	chr5:49488400-49488800	Active TSS	Aorta	Aorta
37	chr5:49488400-49488800	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr5:49488400-49489000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr5:49490200-49514600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr5:49492200-49492600	ZNF genes & repeats	HUVEC	blood vessel
41	chr5:49492400-49493000	Weak transcription	NH-A	brain
42	chr5:49494200-49494600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:49495800-49497200	Weak transcription	NH-A	brain
44	chr5:49495800-49517800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:49496000-49496200	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr5:49497200-49497600	ZNF genes & repeats	NH-A	brain
47	chr5:49497600-49502000	Weak transcription	NH-A	brain
48	chr5:49501600-49502400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr5:49501800-49502400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr5:49501800-49502800	Enhancers	Dnd41	blood

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