Variant report

Variant	nsv983779
Chromosome Location	chr14:47659602-47664617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573620795	chr14:47659614-47659615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542341448	chr14:47659626-47659627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554649218	chr14:47659628-47659629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559426234	chr14:47659638-47659639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184140205	chr14:47659649-47659650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188933493	chr14:47659660-47659661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142388614	chr14:47659679-47659680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192962438	chr14:47659756-47659757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544100858	chr14:47659765-47659766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146461093	chr14:47659779-47659780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138714345	chr14:47659807-47659808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112544787	chr14:47659887-47659888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546702021	chr14:47659917-47659918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566924893	chr14:47659972-47659973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538768407	chr14:47659983-47659984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374776591	chr14:47660009-47660010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552754346	chr14:47660010-47660011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569516103	chr14:47660042-47660043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538527075	chr14:47660067-47660068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185630626	chr14:47660072-47660073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190454240	chr14:47660092-47660093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143174672	chr14:47660120-47660121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10873004	chr14:47660133-47660134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374837124	chr14:47660166-47660167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572855296	chr14:47660177-47660178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369777168	chr14:47660207-47660208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546085122	chr14:47660208-47660209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544751892	chr14:47660218-47660219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564729490	chr14:47660248-47660249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180772417	chr14:47660273-47660274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202104371	chr14:47660278-47660279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148266251	chr14:47660331-47660332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544081849	chr14:47660340-47660341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140394106	chr14:47660344-47660345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112559269	chr14:47660347-47660348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547495641	chr14:47660364-47660365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10132207	chr14:47660376-47660377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529963052	chr14:47660400-47660401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572672232	chr14:47660450-47660451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185968352	chr14:47660457-47660458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560292809	chr14:47660524-47660525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148087822	chr14:47660529-47660530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55928353	chr14:47660538-47660539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552742217	chr14:47660565-47660566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559469178	chr14:47660602-47660603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35077204	chr14:47660623-47660624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201443497	chr14:47660638-47660639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59188931	chr14:47660640-47660641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569455918	chr14:47660642-47660643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538471202	chr14:47660649-47660650	Weak transcription	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
Breast cancer	21785460	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
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47656200-47661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr14:47656200-47661000	Weak transcription	NH-A	brain
3	chr14:47661000-47661400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:47661000-47661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:47661000-47661400	Enhancers	NH-A	brain
6	chr14:47661000-47661600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:47661400-47662200	Weak transcription	NH-A	brain
8	chr14:47661400-47662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:47662200-47663000	Enhancers	NH-A	brain
10	chr14:47662400-47664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:47662400-47664200	Enhancers	HUVEC	blood vessel
12	chr14:47662600-47664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:47663000-47664000	Weak transcription	NH-A	brain
14	chr14:47663000-47664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:47664000-47664200	Enhancers	NH-A	brain
16	chr14:47664200-47664800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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