Variant report

Variant	nsv983983
Chromosome Location	chr14:72741726-72748921
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	chr14:72740515..72742453-chr14:72744658..72746675,2	MCF-7	breast:
2	chr14:72740515..72742453-chr14:72744658..72746675,2	MCF-7	breast:

Extended variants
information (count: 344 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538299981	chr14:72741858-72741859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535916110	chr14:72741869-72741870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554752113	chr14:72741871-72741872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566795260	chr14:72741909-72741910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554316022	chr14:72741914-72741915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186036364	chr14:72741933-72741934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558664712	chr14:72741951-72741952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577198738	chr14:72741983-72741984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190445070	chr14:72741993-72741994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556738334	chr14:72742077-72742078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574997794	chr14:72742106-72742107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116752316	chr14:72742131-72742132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560407259	chr14:72742164-72742165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572209660	chr14:72742177-72742178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546110393	chr14:72742191-72742192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17110207	chr14:72742235-72742236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531382659	chr14:72742276-72742277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113005172	chr14:72742402-72742403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561404679	chr14:72742407-72742408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113138816	chr14:72742427-72742428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540478480	chr14:72742463-72742464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151053345	chr14:72742491-72742492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548341542	chr14:72742503-72742504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181978930	chr14:72742530-72742531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6574060	chr14:72742583-72742584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534205928	chr14:72742651-72742652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6574061	chr14:72742656-72742657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570750148	chr14:72742659-72742660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538200579	chr14:72742665-72742666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368694921	chr14:72742670-72742671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6574062	chr14:72742695-72742696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574961311	chr14:72742715-72742716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535966351	chr14:72742717-72742718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186360418	chr14:72742721-72742722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572231597	chr14:72742728-72742729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545774160	chr14:72742742-72742743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564444485	chr14:72742785-72742786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576266856	chr14:72742799-72742800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192154005	chr14:72742812-72742813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372115255	chr14:72742838-72742839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377020437	chr14:72742845-72742846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7156265	chr14:72742849-72742850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373319106	chr14:72742896-72742897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527924475	chr14:72742902-72742903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71448392	chr14:72742910-72742911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7156275	chr14:72742911-72742912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571075806	chr14:72742938-72742939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527872209	chr14:72742945-72742946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371841943	chr14:72742980-72742981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182613435	chr14:72742996-72742997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Alzheimer''s disease	22166940	CNVD
Cancer	20164919	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72723400-72747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72732600-72751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72741200-72745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72745000-72745600	Enhancers	Fetal Brain Male	brain
5	chr14:72745000-72747800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:72745200-72745400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:72745400-72748400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:72747600-72752600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:72748400-72748600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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