Variant report

Variant	nsv976832
Chromosome Location	chr14:44423438-44432270
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	chr14:44429802..44430574-chr20:39327036..39327797,2	MCF-7	breast:
2	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229771	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370890650	chr14:44425667-44425668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568752337	chr14:44425669-44425670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144880848	chr14:44425677-44425678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72680713	chr14:44425692-44425693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565679736	chr14:44425699-44425700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539481986	chr14:44425730-44425731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572490927	chr14:44425855-44425856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375541983	chr14:44425857-44425858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557586328	chr14:44425910-44425911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs66701145	chr14:44425938-44425939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191121577	chr14:44425939-44425940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182955068	chr14:44425954-44425955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573591086	chr14:44425983-44425984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371588804	chr14:44426007-44426008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148280875	chr14:44426010-44426011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557597558	chr14:44426018-44426019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4900651	chr14:44426024-44426025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546225528	chr14:44426041-44426042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12892209	chr14:44426047-44426048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538653839	chr14:44426071-44426072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576713927	chr14:44426082-44426083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564400940	chr14:44426152-44426153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531865812	chr14:44426169-44426170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56336711	chr14:44426231-44426232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371490008	chr14:44426238-44426239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187627783	chr14:44426242-44426243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141251346	chr14:44426247-44426248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539569439	chr14:44426269-44426270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145372020	chr14:44426291-44426292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386381240	chr14:44426298-44426299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56107591	chr14:44426303-44426304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200103162	chr14:44426304-44426305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191138474	chr14:44426307-44426308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565638337	chr14:44426317-44426318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539085976	chr14:44426339-44426340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12891664	chr14:44426364-44426365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569636176	chr14:44426397-44426398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536792529	chr14:44426410-44426411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183446221	chr14:44426419-44426420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113425471	chr14:44426485-44426486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187985511	chr14:44426495-44426496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113750542	chr14:44426509-44426510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373937516	chr14:44426522-44426523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192543861	chr14:44426528-44426529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116135636	chr14:44426586-44426587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115227450	chr14:44426594-44426595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12587864	chr14:44426673-44426674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574945108	chr14:44426680-44426681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564543847	chr14:44426683-44426684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79309097	chr14:44426691-44426692	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44425600-44427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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