Variant report

Variant	nsv599438
Chromosome Location	chr5:114006164-114016158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:114014252-114014275	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr5:114014575-114014744	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:114014669-114014674	GM12878	blood:	n/a	n/a
4	CTCF	chr5:114007388-114007486	GM13976	blood:	n/a	n/a
5	CTCF	chr5:114006939-114006987	Fibrobl	skin:	n/a	n/a
6	FOXA2	chr5:114014962-114015260	A549	lung:	n/a	n/a
7	FOXA2	chr5:114014955-114015193	HepG2	liver:	n/a	n/a
8	FOXA2	chr5:114006872-114007186	A549	lung:	n/a	n/a
9	FOXA2	chr5:114014902-114015196	A549	lung:	n/a	n/a
10	FOXA2	chr5:114006852-114007376	A549	lung:	n/a	n/a
11	JUN	chr5:114014538-114014722	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUN	chr5:114014238-114014309	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr5:114014538-114014657	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFK	chr5:114013667-114013703	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:114014936-114015263	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr5:114014871-114015226	H1-neurons	neurons:	n/a	n/a
17	RAD21	chr5:114014540-114014742	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr5:114014536-114014875	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr5:114014565-114014798	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT3	chr5:114013862-114014159	MCF10A-Er-Src	breast:	n/a	n/a
21	ZNF143	chr5:114014612-114014812	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF274	chr5:114006415-114006615	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000246316	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536423431	chr5:114006457-114006458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs576581296	chr5:114006497-114006498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537109643	chr5:114006500-114006501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559026561	chr5:114006514-114006515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577141781	chr5:114006518-114006519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541467092	chr5:114006519-114006520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565227391	chr5:114006530-114006531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs6896307	chr5:114006531-114006532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574828336	chr5:114006544-114006545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139254461	chr5:114006605-114006606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563295561	chr5:114006606-114006607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs80049604	chr5:114006852-114006853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564015716	chr5:114006853-114006854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs141952980	chr5:114006854-114006855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539942512	chr5:114006862-114006863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368910097	chr5:114006863-114006864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs193270611	chr5:114006866-114006867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548573256	chr5:114006867-114006868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570356698	chr5:114006876-114006877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183647943	chr5:114006902-114006903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs370747991	chr5:114006910-114006911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs188301935	chr5:114006920-114006921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs375348859	chr5:114006921-114006922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535075280	chr5:114006931-114006932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs538284550	chr5:114006932-114006933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553516178	chr5:114006933-114006934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191776005	chr5:114006935-114006936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184318172	chr5:114006939-114006940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556957867	chr5:114006942-114006943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575534042	chr5:114006944-114006945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190181877	chr5:114006945-114006946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs287641	chr5:114006946-114006947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs572709439	chr5:114006947-114006948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113587337	chr5:114006962-114006963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539906690	chr5:114006981-114006982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561467974	chr5:114006997-114006998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528861976	chr5:114007013-114007014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs181563441	chr5:114007016-114007017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563820042	chr5:114007057-114007058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531286609	chr5:114007071-114007072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs552600984	chr5:114007072-114007073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62379360	chr5:114007074-114007075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs56382741	chr5:114007079-114007080	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528716090	chr5:114007138-114007139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs374659034	chr5:114007139-114007140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568600512	chr5:114007181-114007182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535470991	chr5:114007182-114007183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557371983	chr5:114007196-114007197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569160853	chr5:114007220-114007221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539678390	chr5:114007240-114007241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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