Variant report

Variant	nsv1025722
Chromosome Location	chr5:49455624-49561216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 9942 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:9942 , 50 per page) page: 1 2 3 4 5 6 7 ... 199

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577763678	chr5:49455625-49455626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189189410	chr5:49455663-49455664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369697422	chr5:49455688-49455689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563556832	chr5:49455704-49455705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111309436	chr5:49455749-49455750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573946772	chr5:49455750-49455751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542262547	chr5:49455751-49455752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562066498	chr5:49455766-49455767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527794110	chr5:49455803-49455804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554875239	chr5:49455820-49455821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547863797	chr5:49455870-49455871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564573066	chr5:49455879-49455880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533550783	chr5:49455882-49455883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200038867	chr5:49455886-49455887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200676886	chr5:49455901-49455902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144956918	chr5:49455915-49455916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548571979	chr5:49455920-49455921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181210255	chr5:49455921-49455922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147930043	chr5:49455965-49455966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557811140	chr5:49455973-49455974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571385933	chr5:49455980-49455981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185573090	chr5:49456003-49456004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191512596	chr5:49456015-49456016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs180685665	chr5:49456032-49456033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186122499	chr5:49456033-49456034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561154607	chr5:49456044-49456045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191934656	chr5:49456045-49456046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553242861	chr5:49456050-49456051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541196190	chr5:49456068-49456069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs564591173	chr5:49456071-49456072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10471784	chr5:49456073-49456074	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs543632009	chr5:49456074-49456075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2125462	chr5:49456084-49456085	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs77135291	chr5:49456085-49456086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs549262944	chr5:49456092-49456093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs565566896	chr5:49456119-49456120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs202097893	chr5:49456142-49456143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528073744	chr5:49456144-49456145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551053261	chr5:49456154-49456155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7293464	chr5:49456173-49456174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs151157446	chr5:49456184-49456185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs562639616	chr5:49456188-49456189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560342716	chr5:49457001-49457002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35556955	chr5:49457015-49457016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200636695	chr5:49457035-49457036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568836751	chr5:49457040-49457041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532190808	chr5:49457041-49457042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200924792	chr5:49457043-49457044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202188007	chr5:49457047-49457048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112357231	chr5:49457056-49457057	Enhancers	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:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49451000-49456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:49456000-49456200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
3	chr5:49457000-49459000	Enhancers	Dnd41	blood
4	chr5:49457400-49458600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:49457400-49458800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr5:49458000-49458600	ZNF genes & repeats	HUVEC	blood vessel
7	chr5:49458000-49464400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr5:49458200-49458400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr5:49458200-49464400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr5:49458400-49460400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:49458600-49460200	Weak transcription	HUVEC	blood vessel
12	chr5:49459000-49459600	Weak transcription	Dnd41	blood
13	chr5:49459600-49459800	ZNF genes & repeats	Dnd41	blood
14	chr5:49460200-49461000	ZNF genes & repeats	HUVEC	blood vessel
15	chr5:49460200-49464400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr5:49460400-49460600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:49460400-49461000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr5:49460400-49464200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:49461200-49464400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr5:49461400-49462000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:49461600-49462000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr5:49461600-49462600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:49463800-49464200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:49463800-49464400	ZNF genes & repeats	Liver	Liver
25	chr5:49463800-49464600	ZNF genes & repeats	HUVEC	blood vessel
26	chr5:49464000-49464200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr5:49464600-49465400	Weak transcription	HUVEC	blood vessel
28	chr5:49469400-49473000	Weak transcription	HUVEC	blood vessel
29	chr5:49470200-49471000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:49470600-49473000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr5:49471000-49476800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr5:49471000-49486200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:49471800-49473000	ZNF genes & repeats	HepG2	liver
36	chr5:49473000-49473400	ZNF genes & repeats	HUVEC	blood vessel
37	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr5:49475400-49478200	ZNF genes & repeats	Dnd41	blood
39	chr5:49476400-49476600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr5:49477000-49482400	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr5:49478200-49479600	Enhancers	Dnd41	blood
42	chr5:49481000-49481400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:49481200-49486200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr5:49481400-49482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:49482200-49482600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:49482200-49482600	ZNF genes & repeats	HUVEC	blood vessel
47	chr5:49482200-49482600	ZNF genes & repeats	NH-A	brain
48	chr5:49483600-49485200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr5:49484200-49485200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr5:49484600-49485000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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