Variant report

Variant	nsv563566
Chromosome Location	chr14:19253306-19327682
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	BRCA1	chr14:19264643-19264785	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:19303507-19303883	HepG2	liver:	n/a	chr14:19303692-19303703
3	CEBPB	chr14:19303651-19303853	IMR90	lung:	n/a	chr14:19303692-19303703
4	CEBPB	chr14:19292550-19292762	HepG2	liver:	n/a	chr14:19292595-19292606
5	CTCF	chr14:19270796-19270860	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr14:19289941-19290030	Lung_OC	lung:	n/a	n/a
7	CTCF	chr14:19258070-19258110	GM13976	blood:	n/a	n/a
8	CTCF	chr14:19313717-19313739	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr14:19323090-19323096	GM13976	blood:	n/a	n/a
10	CTCF	chr14:19290691-19290776	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr14:19326798-19326879	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr14:19325270-19325281	GM10248	blood:	n/a	n/a
13	CTCF	chr14:19314929-19315024	LNCaP	prostate:	n/a	n/a
14	CTCF	chr14:19327137-19327152	GM20000	blood:	n/a	n/a
15	CTCF	chr14:19262669-19262781	GM13976	blood:	n/a	n/a
16	CTCF	chr14:19303734-19303771	LNCaP	prostate:	n/a	n/a
17	CTCF	chr14:19309043-19309075	Medullo	brain:	n/a	n/a
18	ELK1	chr14:19266586-19266899	Hela-S3	cervix:	n/a	n/a
19	ELK1	chr14:19264654-19264695	GM12878	blood:	n/a	n/a
20	FOXA1	chr14:19303439-19303937	HepG2	liver:	n/a	n/a
21	JUND	chr14:19293294-19293490	HepG2	liver:	n/a	n/a
22	MYC	chr14:19261480-19261512	GM12878	blood:	n/a	n/a
23	MYC	chr14:19261524-19261541	GM12878	blood:	n/a	n/a
24	MYC	chr14:19261453-19261464	GM12878	blood:	n/a	n/a
25	PAX5	chr14:19285752-19286191	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:19327221-19327377	ProgFib	skin:	n/a	n/a
27	POLR2A	chr14:19269050-19269066	Gliobla	brain:	n/a	n/a
28	POLR2A	chr14:19254111-19254270	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr14:19266662-19266784	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr14:19326801-19326887	ProgFib	skin:	n/a	n/a
31	POLR2A	chr14:19317504-19317590	Gliobla	brain:	n/a	n/a
32	POLR2A	chr14:19274255-19274475	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:19261773-19261862	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr14:19285374-19285492	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:19293718-19293849	GM12878	blood:	n/a	n/a
36	SIX5	chr14:19285864-19286086	K562	blood:	n/a	n/a
37	SP1	chr14:19277906-19278163	HepG2	liver:	n/a	n/a
38	STAT3	chr14:19266351-19266515	MCF10A-Er-Src	breast:	n/a	n/a
39	USF1	chr14:19263985-19264144	HepG2	liver:	n/a	n/a
40	USF1	chr14:19314917-19315042	HepG2	liver:	n/a	n/a
41	USF1	chr14:19303743-19303882	HepG2	liver:	n/a	n/a
42	WRNIP1	chr14:19265512-19265822	GM12878	blood:	n/a	n/a
43	ZBTB33	chr14:19285210-19285352	HepG2	liver:	n/a	n/a
44	ZBTB33	chr14:19303742-19303885	HepG2	liver:	n/a	n/a
45	ZBTB33	chr14:19278244-19278501	GM12878	blood:	n/a	n/a
46	ZBTB33	chr14:19285822-19286140	HepG2	liver:	n/a	n/a
47	ZBTB33	chr14:19303653-19303973	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000238442	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371858539	chr14:19265218-19265219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560693687	chr14:19265228-19265229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376547842	chr14:19265259-19265260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113635895	chr14:19265263-19265264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs137932929	chr14:19265264-19265265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143400563	chr14:19265280-19265281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531986430	chr14:19265343-19265344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550912892	chr14:19265354-19265355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147130977	chr14:19265362-19265363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529943665	chr14:19265364-19265365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116591955	chr14:19265372-19265373	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567695494	chr14:19265381-19265382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189299854	chr14:19265385-19265386	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181338505	chr14:19265404-19265405	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553162595	chr14:19265421-19265422	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571630312	chr14:19265428-19265429	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559763297	chr14:19265429-19265430	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538631730	chr14:19265432-19265433	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557256882	chr14:19265450-19265451	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575526791	chr14:19265466-19265467	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138951323	chr14:19265471-19265472	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554750151	chr14:19265474-19265475	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77982918	chr14:19265494-19265495	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540346140	chr14:19265513-19265514	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564797085	chr14:19265514-19265515	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150773878	chr14:19265519-19265520	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184059319	chr14:19265537-19265538	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368015367	chr14:19265539-19265540	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372046026	chr14:19265560-19265561	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139142561	chr14:19265569-19265570	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537478307	chr14:19265573-19265574	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78736442	chr14:19265580-19265581	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs74991531	chr14:19265588-19265589	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188602340	chr14:19265608-19265609	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149811301	chr14:19265610-19265611	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560316389	chr14:19265623-19265624	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527459351	chr14:19265631-19265632	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547105149	chr14:19265633-19265634	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571627716	chr14:19265641-19265642	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538690658	chr14:19265659-19265660	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181717781	chr14:19265662-19265663	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146326516	chr14:19265665-19265666	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181387399	chr14:19265690-19265691	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75243488	chr14:19265698-19265699	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568868798	chr14:19265706-19265707	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369189308	chr14:19265707-19265708	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536549773	chr14:19265708-19265709	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113713008	chr14:19265710-19265711	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554939184	chr14:19265721-19265722	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186071549	chr14:19265738-19265739	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Lung cancer	18438408	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
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	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
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ependymoma	20639864	CNVD
Williams Syndrome	20824207	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	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	chr14:19265200-19265800	Active TSS	Fetal Heart	heart
2	chr14:19265400-19268400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:19265800-19266200	ZNF genes & repeats	Fetal Heart	heart
4	chr14:19265800-19268200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr14:19267800-19268200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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