Variant report

Variant	nsv974267
Chromosome Location	chr14:20495809-20500910
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	chr14:20496831-20496869	GM12878	blood:	n/a	chr14:20496855-20496862
2	MAX	chr14:20499198-20499499	K562	blood:	n/a	chr14:20499400-20499415
3	USF1	chr14:20499292-20499552	K562	blood:	n/a	chr14:20499404-20499413 chr14:20499404-20499413

Variant related genes	Relation type
ENSG00000265199	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563376129	chr14:20496218-20496219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs191485761	chr14:20496230-20496231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565212914	chr14:20496252-20496253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs58246181	chr14:20496280-20496281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184182248	chr14:20496298-20496299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs562238729	chr14:20496339-20496340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529616726	chr14:20496391-20496392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548029657	chr14:20496426-20496427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565982803	chr14:20496470-20496471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539797873	chr14:20496479-20496480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12893341	chr14:20496496-20496497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187949568	chr14:20496525-20496526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570150038	chr14:20496551-20496552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs371530124	chr14:20496573-20496574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143831299	chr14:20496586-20496587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201486741	chr14:20496678-20496679	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534638785	chr14:20496722-20496723	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1953994	chr14:20496729-20496730	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377410882	chr14:20496734-20496735	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17277003	chr14:20496825-20496826	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541181726	chr14:20496838-20496839	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79071459	chr14:20496907-20496908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146393782	chr14:20496921-20496922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139782334	chr14:20496939-20496940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2039863	chr14:20496983-20496984	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562278873	chr14:20496993-20496994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190918038	chr14:20496995-20496996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs182333209	chr14:20497010-20497011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs56925149	chr14:20497090-20497091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374043390	chr14:20497096-20497097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559979610	chr14:20497142-20497143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533422221	chr14:20497147-20497148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551772418	chr14:20497150-20497151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569664890	chr14:20497186-20497187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186757106	chr14:20497208-20497209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs549056457	chr14:20497240-20497241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144181638	chr14:20497362-20497363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs151037400	chr14:20497363-20497364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs573646264	chr14:20497371-20497372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372249808	chr14:20497382-20497383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs543010924	chr14:20497383-20497384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553027694	chr14:20497394-20497395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112698161	chr14:20497396-20497397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562326143	chr14:20497437-20497438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140976176	chr14:20497441-20497442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531374365	chr14:20497471-20497472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12587722	chr14:20497486-20497487	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149802889	chr14:20497487-20497488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575272738	chr14:20497513-20497514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114928676	chr14:20497517-20497518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20496200-20499200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr14:20496600-20496800	Enhancers	Small Intestine	intestine
3	chr14:20500000-20500400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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