Variant report

Variant	nsv520812
Chromosome Location	chr16:52039203-52057889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:52040360-52040510	RPTEC	kidney:	n/a	n/a
2	JUN	chr16:52050661-52050800	HepG2	liver:	n/a	n/a
3	KAP1	chr16:52050243-52050694	HEK293	kidney:	n/a	n/a
4	KAP1	chr16:52050497-52050742	U2OS	brain:	n/a	n/a
5	MAFF	chr16:52039555-52039832	HepG2	liver:	n/a	n/a
6	MAFK	chr16:52039554-52039816	IMR90	lung:	n/a	n/a
7	MAFK	chr16:52039534-52039817	HepG2	liver:	n/a	n/a
8	MAFK	chr16:52039508-52039830	HepG2	liver:	n/a	n/a
9	MYC	chr16:52048013-52048056	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr16:52042265-52042369	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:52055996-52056602	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr16:52050841-52050985	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr16:52057064-52057107	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr16:52055992-52056656	H1-neurons	neurons:	n/a	n/a
15	SETDB1	chr16:52050300-52050612	U2OS	brain:	n/a	n/a
16	SPI1	chr16:52052598-52052710	K562	blood:	n/a	n/a
17	SPI1	chr16:52043351-52043546	GM12878	blood:	n/a	n/a
18	SPI1	chr16:52043356-52043547	GM12891	blood:	n/a	n/a
19	SPI1	chr16:52052574-52052795	GM12891	blood:	n/a	n/a
20	SPI1	chr16:52052595-52052698	K562	blood:	n/a	n/a
21	SPI1	chr16:52043385-52043492	GM12878	blood:	n/a	n/a
22	SPI1	chr16:52052596-52052748	GM12878	blood:	n/a	n/a
23	SPI1	chr16:52052576-52052730	GM12878	blood:	n/a	n/a
24	SPI1	chr16:52043364-52043541	K562	blood:	n/a	n/a
25	STAT3	chr16:52040273-52040432	MCF10A-Er-Src	breast:	n/a	n/a
26	WRNIP1	chr16:52056116-52056127	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152O14.2.1-2	chr16:52039391-52039543	XLOC_011939
2	lnc-RP11-152O14.5.1-1	chr16:52039404-52041319	NONHSAT142492
3	lnc-RP11-152O14.5.1-1	chr16:52039399-52039546	NONHSAT142491

No data

Variant related genes	Relation type
C16orf97	TF binding region

Extended variants
information (count: 296 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181072241	chr16:52039406-52039407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs372406981	chr16:52039437-52039438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs562849957	chr16:52039445-52039446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs184494463	chr16:52039462-52039463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs549952870	chr16:52039497-52039498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189006117	chr16:52039529-52039530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs528360077	chr16:52039548-52039549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs200908239	chr16:52039553-52039554	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs74017190	chr16:52039560-52039561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369668900	chr16:52039728-52039729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149809758	chr16:52039801-52039802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs549997642	chr16:52039838-52039839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569774720	chr16:52039860-52039861	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs182445974	chr16:52039869-52039870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs555305405	chr16:52039871-52039872	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572128140	chr16:52039873-52039874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs144725895	chr16:52039917-52039918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs550982260	chr16:52040057-52040058	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558460685	chr16:52040107-52040108	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs148567494	chr16:52040138-52040139	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs59196380	chr16:52040139-52040140	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563884257	chr16:52040146-52040147	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs373412166	chr16:52040154-52040155	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs375133268	chr16:52040166-52040167	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs369353432	chr16:52040187-52040188	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs142909462	chr16:52040230-52040231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs71386581	chr16:52040233-52040234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs79712686	chr16:52040260-52040261	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs559370545	chr16:52040322-52040323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs528123571	chr16:52040355-52040356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs372791223	chr16:52040374-52040375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs551377919	chr16:52040378-52040379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565230257	chr16:52040392-52040393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs530716926	chr16:52040429-52040430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs550708817	chr16:52040438-52040439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs567138743	chr16:52040502-52040503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370848068	chr16:52040534-52040535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs549091441	chr16:52040557-52040558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs147749426	chr16:52040567-52040568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs77971201	chr16:52040576-52040577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs142598251	chr16:52040589-52040590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs578167760	chr16:52040593-52040594	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs549053513	chr16:52040640-52040641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs557562776	chr16:52040657-52040658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs574313405	chr16:52040659-52040660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs147783487	chr16:52040675-52040676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs73596686	chr16:52040680-52040681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs538218384	chr16:52040706-52040707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs11643506	chr16:52040718-52040719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs553352246	chr16:52040720-52040721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52040000-52040200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:52040800-52041200	Enhancers	Pancreas	Pancrea
3	chr16:52047400-52051800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:52056400-52056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:52057600-52057800	Enhancers	Pancreatic Islets	Pancreatic Islet

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