Variant report

Variant	nsv969978
Chromosome Location	chr5:117521989-117526567
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	CTCF	chr5:117523321-117523359	GM12878	blood:	n/a	chr5:117523337-117523355 chr5:117523332-117523353
2	CTCF	chr5:117523300-117523450	Caco-2	colon:	n/a	chr5:117523337-117523355 chr5:117523332-117523353
3	E2F4	chr5:117522783-117523016	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr5:117526329-117526792	MCF10A-Er-Src	breast:	n/a	chr5:117526524-117526535
5	E2F4	chr5:117525029-117525234	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:117525254-117525656	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-4	chr5:117523161-117523286	XLOC_004524
2	lnc-DMXL1-4	chr5:117523160-117523290	XLOC_004524
3	lnc-DMXL1-4	chr5:117523162-117523286	XLOC_004524

Variant related genes	Relation type
ENSG00000249797	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149146911	chr5:117522813-117522814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528383368	chr5:117522819-117522820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373924047	chr5:117522854-117522855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189094681	chr5:117522859-117522860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368082837	chr5:117522878-117522879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs140549862	chr5:117522899-117522900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548416624	chr5:117522956-117522957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568261007	chr5:117522994-117522995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs536686184	chr5:117522995-117522996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550177366	chr5:117523047-117523048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10054605	chr5:117523050-117523051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181085365	chr5:117523057-117523058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558896767	chr5:117523062-117523063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143225352	chr5:117523063-117523064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534900929	chr5:117523066-117523067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375195072	chr5:117523070-117523071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533691604	chr5:117523078-117523079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148388541	chr5:117523110-117523111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141570517	chr5:117523117-117523118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10054660	chr5:117523137-117523138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571310741	chr5:117523147-117523148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556513586	chr5:117523153-117523154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539657495	chr5:117523171-117523172	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576547097	chr5:117523189-117523190	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs545844920	chr5:117523200-117523201	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs62370308	chr5:117523213-117523214	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs112122720	chr5:117523251-117523252	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs138478269	chr5:117523392-117523393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182328401	chr5:117525214-117525215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186287692	chr5:117525286-117525287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139925767	chr5:117525338-117525339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191108499	chr5:117525373-117525374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112196573	chr5:117525404-117525405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548974547	chr5:117525436-117525437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568992017	chr5:117525437-117525438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537908842	chr5:117525527-117525528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557996041	chr5:117525546-117525547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182923162	chr5:117525568-117525569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146584982	chr5:117525639-117525640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140987583	chr5:117525742-117525743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573864812	chr5:117525746-117525747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376362673	chr5:117525756-117525757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541850827	chr5:117525785-117525786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386691591	chr5:117525793-117525794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs66784076	chr5:117525794-117525795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117523000-117523400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:117525200-117525800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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