Variant report

Variant	nsv983944
Chromosome Location	chr14:43469794-43481341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:42693266..42693778-chr14:43474779..43475522,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565587729	chr14:43470813-43470814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs532950221	chr14:43470863-43470864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367601573	chr14:43470866-43470867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs76161531	chr14:43470908-43470909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569751382	chr14:43470939-43470940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370344270	chr14:43470942-43470943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs78048328	chr14:43470988-43470989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549631802	chr14:43470995-43470996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567849807	chr14:43470999-43471000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75310500	chr14:43471008-43471009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185438618	chr14:43471013-43471014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11847562	chr14:43471022-43471023	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539040472	chr14:43471053-43471054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74049860	chr14:43471061-43471062	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527873345	chr14:43471105-43471106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575362017	chr14:43471124-43471125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149661386	chr14:43471135-43471136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561591268	chr14:43471150-43471151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573500170	chr14:43471175-43471176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541232197	chr14:43471176-43471177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561649517	chr14:43471188-43471189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187960685	chr14:43471194-43471195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs144520596	chr14:43471211-43471212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs530283761	chr14:43471262-43471263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs76198361	chr14:43471263-43471264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551382681	chr14:43471302-43471303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116893397	chr14:43471304-43471305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74049861	chr14:43471337-43471338	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542515408	chr14:43471343-43471344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78371084	chr14:43471382-43471383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181695757	chr14:43472611-43472612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572745193	chr14:43472617-43472618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs4277267	chr14:43472626-43472627	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534349086	chr14:43472727-43472728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4562978	chr14:43472733-43472734	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528248039	chr14:43472734-43472735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543685085	chr14:43472753-43472754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372373910	chr14:43472755-43472756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34324904	chr14:43472805-43472806	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs74515623	chr14:43472814-43472815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187164399	chr14:43472821-43472822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12435080	chr14:43472837-43472838	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79177183	chr14:43472839-43472840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs61991303	chr14:43472869-43472870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551059222	chr14:43472873-43472874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs11848994	chr14:43472877-43472878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75292742	chr14:43472878-43472879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189393988	chr14:43472888-43472889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527353925	chr14:43472938-43472939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181409841	chr14:43472966-43472967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43470800-43471400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr14:43472600-43473600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr14:43472800-43474200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr14:43473200-43474200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:43473400-43473600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr14:43473400-43473600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr14:43473600-43473800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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