Variant report

Variant	nsv598174
Chromosome Location	chr5:52498651-52500039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:52500030-52500264	HepG2	liver:	n/a	chr5:52500137-52500148

Variant related genes	Relation type
ENSG00000213940	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562022845	chr5:52498653-52498654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529687975	chr5:52498731-52498732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547772702	chr5:52498732-52498733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562902962	chr5:52498734-52498735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191040570	chr5:52498745-52498746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs166129	chr5:52498773-52498774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570568519	chr5:52498792-52498793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111470343	chr5:52498823-52498824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546941949	chr5:52498842-52498843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568356293	chr5:52498850-52498851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535709881	chr5:52498910-52498911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183297912	chr5:52498914-52498915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369537848	chr5:52498928-52498929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187192358	chr5:52498932-52498933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117871422	chr5:52498947-52498948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558216926	chr5:52498966-52498967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573385814	chr5:52498967-52498968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540819003	chr5:52498975-52498976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10072441	chr5:52499025-52499026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574003456	chr5:52499040-52499041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544455118	chr5:52499059-52499060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141517204	chr5:52499086-52499087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373427714	chr5:52499135-52499136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150463228	chr5:52499164-52499165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564076063	chr5:52499182-52499183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376333660	chr5:52499185-52499186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114607223	chr5:52499189-52499190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564184854	chr5:52499196-52499197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs118119119	chr5:52499206-52499207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546827915	chr5:52499225-52499226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568216538	chr5:52499242-52499243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35930114	chr5:52499248-52499249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116520517	chr5:52499308-52499309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28750444	chr5:52499333-52499334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76585576	chr5:52499347-52499348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397733034	chr5:52499348-52499349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10471845	chr5:52499364-52499365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371332073	chr5:52499379-52499380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539799850	chr5:52499409-52499410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192076627	chr5:52499411-52499412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549483889	chr5:52499445-52499446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116870132	chr5:52499452-52499453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184469264	chr5:52499456-52499457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555543231	chr5:52499508-52499509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544944572	chr5:52499531-52499532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544518600	chr5:52499534-52499535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112114113	chr5:52499562-52499563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187709977	chr5:52499608-52499609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545779466	chr5:52499611-52499612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193284191	chr5:52499654-52499655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52489000-52507000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52489600-52507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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