Variant report

Variant	nsv526100
Chromosome Location	chr14:24225001-24234400
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	MAFF	chr14:24232636-24232975	HepG2	liver:	n/a	chr14:24232790-24232808 chr14:24232796-24232810
2	MAFK	chr14:24232626-24232979	HepG2	liver:	n/a	chr14:24232793-24232813 chr14:24232795-24232811 chr14:24232792-24232807 chr14:24232800-24232809 chr14:24232796-24232810
3	MAFK	chr14:24231850-24231939	HepG2	liver:	n/a	n/a
4	MAFK	chr14:24232691-24232947	IMR90	lung:	n/a	chr14:24232793-24232813 chr14:24232795-24232811 chr14:24232792-24232807 chr14:24232800-24232809 chr14:24232796-24232810
5	MAFK	chr14:24232634-24232982	HepG2	liver:	n/a	chr14:24232793-24232813 chr14:24232795-24232811 chr14:24232792-24232807 chr14:24232800-24232809 chr14:24232796-24232810
6	POLR2A	chr14:24225714-24225891	GM12878	blood:	n/a	n/a
7	REST	chr14:24227926-24228001	GM12878	blood:	n/a	n/a
8	SPI1	chr14:24227882-24228040	K562	blood:	n/a	n/a
9	ZBTB33	chr14:24227897-24228015	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24223891..24226209-chr14:24241894..24243838,2	MCF-7	breast:
2	chr14:24192603..24195512-chr14:24231580..24233486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270618	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192886282	chr14:24231900-24231901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76124768	chr14:24231901-24231902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs1958287	chr14:24231913-24231914	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs189448260	chr14:24232674-24232675	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs10146945	chr14:24232676-24232677	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386775638	chr14:24232687-24232688	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs10135864	chr14:24232688-24232689	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573669709	chr14:24232719-24232720	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542121633	chr14:24232823-24232824	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373407138	chr14:24232831-24232832	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572207155	chr14:24232847-24232848	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111423886	chr14:24232865-24232866	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564210933	chr14:24232873-24232874	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533044130	chr14:24232874-24232875	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543471221	chr14:24232886-24232887	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548565768	chr14:24232898-24232899	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs113101434	chr14:24232900-24232901	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs7156687	chr14:24232947-24232948	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7157353	chr14:24232955-24232956	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549736015	chr14:24232967-24232968	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs7157519	chr14:24233026-24233027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs528722155	chr14:24233066-24233067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7157553	chr14:24233067-24233068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571432995	chr14:24233107-24233108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181725390	chr14:24233136-24233137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537167690	chr14:24233195-24233196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557001222	chr14:24233252-24233253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567331166	chr14:24233278-24233279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7156111	chr14:24233306-24233307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs145692536	chr14:24233345-24233346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572242414	chr14:24233422-24233423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541254988	chr14:24233427-24233428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376723548	chr14:24233434-24233435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186898785	chr14:24233445-24233446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72690319	chr14:24233479-24233480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148540263	chr14:24233481-24233482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563335384	chr14:24233491-24233492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536266225	chr14:24233516-24233517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528886594	chr14:24233532-24233533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542247492	chr14:24233548-24233549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538487771	chr14:24233629-24233630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7141665	chr14:24233661-24233662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76465587	chr14:24233666-24233667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78549355	chr14:24233709-24233710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572719192	chr14:24233717-24233718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78264633	chr14:24233722-24233723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550663186	chr14:24233778-24233779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538665644	chr14:24233797-24233798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191295428	chr14:24233812-24233813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537630912	chr14:24233855-24233856	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24232600-24234400	Enhancers	Liver	Liver
2	chr14:24234400-24235200	Weak transcription	Liver	Liver

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