Variant report

Variant	nsv564631
Chromosome Location	chr14:43791937-43822599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
2	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
3	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:

Extended variants
information (count: 282 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532807995	chr14:43795606-43795607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569342383	chr14:43795623-43795624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530271935	chr14:43795655-43795656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573812342	chr14:43795679-43795680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs4465515	chr14:43795693-43795694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534046206	chr14:43795725-43795726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566475628	chr14:43795729-43795730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552587511	chr14:43795749-43795750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375667847	chr14:43795754-43795755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11848318	chr14:43795764-43795765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538935080	chr14:43795774-43795775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557334894	chr14:43795815-43795816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs4616189	chr14:43795817-43795818	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12879201	chr14:43795818-43795819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375907466	chr14:43795820-43795821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191786163	chr14:43795831-43795832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375743045	chr14:43795883-43795884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12879071	chr14:43795884-43795885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554490308	chr14:43795885-43795886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572861528	chr14:43795907-43795908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539974057	chr14:43795911-43795912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs61998391	chr14:43795914-43795915	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34340019	chr14:43795924-43795925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576471123	chr14:43795989-43795990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142942318	chr14:43796035-43796036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12883076	chr14:43796043-43796044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12884347	chr14:43796044-43796045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563149184	chr14:43796079-43796080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11849242	chr14:43796091-43796092	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548727544	chr14:43796109-43796110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560554559	chr14:43796149-43796150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs113121333	chr14:43796151-43796152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371748712	chr14:43796164-43796165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs61998392	chr14:43796169-43796170	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs66583360	chr14:43816611-43816612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533216344	chr14:43816616-43816617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369806740	chr14:43816622-43816623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567152879	chr14:43816623-43816624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367710623	chr14:43816626-43816627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4900640	chr14:43816628-43816629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376662985	chr14:43816629-43816630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534548181	chr14:43816644-43816645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552909583	chr14:43816666-43816667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544851201	chr14:43816682-43816683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74639696	chr14:43816715-43816716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375789457	chr14:43816718-43816719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12437428	chr14:43816719-43816720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139857124	chr14:43816763-43816764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535827005	chr14:43816800-43816801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143841419	chr14:43816817-43816818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	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	chr14:43795600-43796200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:43795800-43796200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:43816600-43829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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