Variant report

Variant	nsv1041138
Chromosome Location	chr14:83777903-83798154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:258 , 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	rs726807	chr14:83777903-83777904	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565267104	chr14:83777904-83777905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139427786	chr14:83777950-83777951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs377020587	chr14:83777952-83777953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560128815	chr14:83777971-83777972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527440439	chr14:83777976-83777977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2372421	chr14:83777996-83777997	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568882389	chr14:83778272-83778273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376710940	chr14:83778280-83778281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369729465	chr14:83778281-83778282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs66822853	chr14:83778282-83778283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61110095	chr14:83778283-83778284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371960537	chr14:83778284-83778285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376807631	chr14:83778287-83778288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369836461	chr14:83778288-83778289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373834937	chr14:83778289-83778290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116690434	chr14:83778312-83778313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs162654	chr14:83778352-83778353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549549216	chr14:83778428-83778429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566750226	chr14:83778443-83778444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190447957	chr14:83778477-83778478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539012606	chr14:83778505-83778506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374327950	chr14:83778519-83778520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376944311	chr14:83778541-83778542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565944545	chr14:83778563-83778564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533783036	chr14:83778582-83778583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536403137	chr14:83778605-83778606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554561212	chr14:83778620-83778621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369231083	chr14:83778747-83778748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558737083	chr14:83778798-83778799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576094200	chr14:83778812-83778813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543877053	chr14:83778815-83778816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558727511	chr14:83778823-83778824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35378227	chr14:83778850-83778851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397720225	chr14:83778856-83778857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397812469	chr14:83778857-83778858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554248457	chr14:83778912-83778913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182224917	chr14:83778965-83778966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560346642	chr14:83778989-83778990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116987643	chr14:83779027-83779028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185958052	chr14:83779046-83779047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189824161	chr14:83779059-83779060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534047282	chr14:83779073-83779074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531465898	chr14:83779124-83779125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145363835	chr14:83779160-83779161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113624166	chr14:83779169-83779170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17118382	chr14:83779178-83779179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532093915	chr14:83779181-83779182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547780491	chr14:83779200-83779201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142688251	chr14:83782868-83782869	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83777400-83778000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:83778200-83779000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:83778400-83779000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:83778400-83779200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:83778600-83779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:83782800-83783000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:83783200-83784200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:83784200-83784800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:83784200-83785200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:83784400-83784800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:83784400-83785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:83784400-83785400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:83784400-83785400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:83784800-83785200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:83784800-83785200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:83787000-83787400	Enhancers	HSMM	muscle
17	chr14:83793400-83795800	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:83793800-83794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:83794000-83795000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:83794400-83794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:83794400-83796200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:83794600-83795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:83795600-83796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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