Variant report

Variant	nsv511529
Chromosome Location	chr14:20553680-20562080
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	ATF1	chr14:20561670-20561913	K562	blood:	n/a	n/a
2	CTCF	chr14:20556922-20556953	LNCaP	prostate:	n/a	n/a
3	CTCF	chr14:20556740-20556890	AG04449	skin:	n/a	n/a
4	CTCF	chr14:20556820-20556970	HEK293	kidney:	n/a	chr14:20556904-20556922
5	CTCF	chr14:20556840-20556990	MCF-7	breast:	n/a	chr14:20556904-20556922
6	E2F4	chr14:20558815-20559015	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr14:20560254-20560445	K562	blood:	n/a	n/a
8	POLR2A	chr14:20561432-20561947	HL-60	blood:	n/a	n/a
9	RCOR1	chr14:20561585-20561948	K562	blood:	n/a	n/a
10	SPI1	chr14:20561623-20561896	K562	blood:	n/a	chr14:20561775-20561784 chr14:20561679-20561692 chr14:20561773-20561786
11	SPI1	chr14:20561499-20562022	HL-60	blood:	n/a	chr14:20561775-20561784 chr14:20561679-20561692 chr14:20561773-20561786
12	SPI1	chr14:20561551-20561924	HL-60	blood:	n/a	chr14:20561775-20561784 chr14:20561679-20561692 chr14:20561773-20561786
13	TEAD4	chr14:20561489-20561950	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNA5SP380	TF binding region
OR4T1P	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150970436	chr14:20556759-20556760	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs552879226	chr14:20556772-20556773	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs566688182	chr14:20556792-20556793	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs188558142	chr14:20556823-20556824	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs181603478	chr14:20556896-20556897	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs570652355	chr14:20556903-20556904	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs538090256	chr14:20556910-20556911	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs556204500	chr14:20556979-20556980	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs535792108	chr14:20558839-20558840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554423832	chr14:20558859-20558860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572382360	chr14:20558862-20558863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539810914	chr14:20558875-20558876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12590521	chr14:20558876-20558877	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12588910	chr14:20558938-20558939	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs199781272	chr14:20558946-20558947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77480255	chr14:20558983-20558984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs74585844	chr14:20560258-20560259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs75010817	chr14:20560259-20560260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs116033362	chr14:20560281-20560282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183806811	chr14:20560299-20560300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs537435525	chr14:20560314-20560315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12890274	chr14:20560354-20560355	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567754143	chr14:20560371-20560372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs188912447	chr14:20560398-20560399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192402696	chr14:20560432-20560433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534730186	chr14:20560434-20560435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373828660	chr14:20560439-20560440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs556882805	chr14:20561437-20561438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs57793822	chr14:20561481-20561482	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572728791	chr14:20561631-20561632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540357070	chr14:20561656-20561657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184704879	chr14:20561712-20561713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563668196	chr14:20561733-20561734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4144240	chr14:20561753-20561754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148639678	chr14:20561764-20561765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116638051	chr14:20561783-20561784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111649968	chr14:20561802-20561803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201569304	chr14:20561820-20561821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573562609	chr14:20561822-20561823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9323500	chr14:20561847-20561848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562264558	chr14:20561858-20561859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78707650	chr14:20561910-20561911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4144239	chr14:20561922-20561923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571404215	chr14:20561942-20561943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547940017	chr14:20561949-20561950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74037232	chr14:20561953-20561954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550370303	chr14:20561969-20561970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4144238	chr14:20561971-20561972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20561600-20562000	Enhancers	Primary neutrophils fromperipheralblood	blood

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