Variant report

Variant	nsv521588
Chromosome Location	chr5:119008415-119015813
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	chr5:119011346-119011639	HepG2	liver:	n/a	chr5:119011499-119011510
2	CEBPB	chr5:119011375-119011613	IMR90	lung:	n/a	chr5:119011499-119011510
3	CEBPB	chr5:119011424-119011579	A549	lung:	n/a	chr5:119011499-119011510
4	CTCF	chr5:119010165-119010221	GM13976	blood:	n/a	n/a
5	MAFF	chr5:119014110-119014262	HepG2	liver:	n/a	n/a
6	MAFK	chr5:119011472-119011726	HepG2	liver:	n/a	n/a
7	MAFK	chr5:119011481-119011643	HepG2	liver:	n/a	n/a
8	MAFK	chr5:119014092-119014275	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:119009506-119009592	GM12878	blood:	n/a	n/a
10	TCF12	chr5:119014368-119014634	H1-hESC	embryonic stem cell:	n/a	chr5:119014501-119014508
11	TCF12	chr5:119014369-119014658	H1-hESC	embryonic stem cell:	n/a	chr5:119014501-119014508

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119007680..119010019-chr5:119012077..119014040,2	K562	blood:
2	chr5:119007680..119010019-chr5:119012077..119014040,2	K562	blood:

Variant related genes	Relation type
ENSG00000234259	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115011643	chr5:119011348-119011349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73249894	chr5:119011368-119011369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs578156984	chr5:119011398-119011399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540765132	chr5:119011500-119011501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs180813488	chr5:119011517-119011518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529148853	chr5:119011522-119011523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs330206	chr5:119011525-119011526	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577290796	chr5:119011564-119011565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs142569627	chr5:119011582-119011583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187594913	chr5:119011594-119011595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144924230	chr5:119011616-119011617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551106086	chr5:119011617-119011618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs571254770	chr5:119011645-119011646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552017446	chr5:119014121-119014122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs78707822	chr5:119014132-119014133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527862930	chr5:119014134-119014135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138658309	chr5:119014163-119014164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567853418	chr5:119014180-119014181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192330760	chr5:119014216-119014217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549858639	chr5:119014250-119014251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184336913	chr5:119014255-119014256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs538726085	chr5:119014270-119014271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs543410806	chr5:119014385-119014386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141347072	chr5:119014435-119014436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs115034015	chr5:119014441-119014442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs563110915	chr5:119014449-119014450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs570087415	chr5:119014454-119014455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7735037	chr5:119014459-119014460	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113715108	chr5:119014468-119014469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7717177	chr5:119014471-119014472	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527926671	chr5:119014484-119014485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs77397809	chr5:119014502-119014503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369472025	chr5:119014509-119014510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs74646998	chr5:119014522-119014523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs535930027	chr5:119014552-119014553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550166342	chr5:119014587-119014588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563210965	chr5:119014638-119014639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530810293	chr5:119014644-119014645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569986072	chr5:119014652-119014653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538626386	chr5:119014653-119014654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537245538	chr5:119015812-119015813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs330204	chr5:119015813-119015814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119015800-119016200	Enhancers	Pancreas	Pancrea
2	chr5:119015800-119016400	Enhancers	Fetal Muscle Trunk	muscle

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