Variant report

Variant	nsv1043869
Chromosome Location	chr14:40968834-41044406
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	chr14:41022386..41024582-chr14:41027316..41029849,2	K562	blood:
2	chr14:41022386..41024582-chr14:41027316..41029849,2	K562	blood:

Extended variants
information (count: 336 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:336 , 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	rs574638030	chr14:40980004-40980005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562603415	chr14:40980016-40980017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537124877	chr14:40980023-40980024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371637108	chr14:40980028-40980029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9323025	chr14:40980030-40980031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577185963	chr14:40980034-40980035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201364826	chr14:40980055-40980056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552995172	chr14:40980062-40980063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573054904	chr14:40980071-40980072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139585890	chr14:40980072-40980073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542089058	chr14:40980091-40980092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569610010	chr14:40980117-40980118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145548652	chr14:40980133-40980134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530653293	chr14:40980139-40980140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544337773	chr14:40980145-40980146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372043020	chr14:40980179-40980180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79905671	chr14:40980216-40980217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532791330	chr14:40980220-40980221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76677397	chr14:40980288-40980289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566284238	chr14:40980289-40980290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528756318	chr14:40980329-40980330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548401181	chr14:40980371-40980372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9323026	chr14:40980393-40980394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9806011	chr14:40980472-40980473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17110871	chr14:40980503-40980504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9323027	chr14:40980535-40980536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9323028	chr14:40980592-40980593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1958870	chr14:40980599-40980600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539459876	chr14:40980622-40980623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548943405	chr14:40980630-40980631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567450465	chr14:40980642-40980643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553325086	chr14:40980661-40980662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200648764	chr14:40980671-40980672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573224322	chr14:40980672-40980673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35317347	chr14:40980673-40980674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186315224	chr14:40980688-40980689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555636755	chr14:40980693-40980694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192077471	chr14:40980720-40980721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144360313	chr14:40980727-40980728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61462296	chr14:40988835-40988836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570811062	chr14:40988837-40988838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1959253	chr14:40988853-40988854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs57666397	chr14:40988871-40988872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549244648	chr14:40988873-40988874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142314726	chr14:40988882-40988883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2050486	chr14:40988919-40988920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112832911	chr14:40988943-40988944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2783774	chr14:40988947-40988948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs377233121	chr14:40988961-40988962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537595275	chr14:40988985-40988986	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40980000-40980800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:40988800-40989200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:40994400-40994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:40994400-40994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:40994800-40997600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:40997600-40998000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:41042400-41042600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:41042400-41042600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:41042600-41046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:41042800-41043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:41043800-41044400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:41043800-41044400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:41043800-41044400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:41044000-41044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:41044000-41044400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:41044000-41044400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:41044000-41044600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:41044200-41044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:41044400-41045400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:41044400-41046000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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