Variant report

Variant	nsv976836
Chromosome Location	chr14:66733872-66740140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:66729166..66732128-chr14:66733699..66735617,2	K562	blood:
2	chr14:66735910..66737746-chr14:66747875..66749421,2	MCF-7	breast:
3	chr11:36171264..36171928-chr14:66734278..66734780,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-3	chr14:66734293-66734727	NONHSAT037416

Extended variants
information (count: 234 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149907473	chr14:66733887-66733888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs78146876	chr14:66733890-66733891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs147579974	chr14:66733967-66733968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs1369223	chr14:66734034-66734035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs60202780	chr14:66734056-66734057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535620887	chr14:66734071-66734072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555331766	chr14:66734072-66734073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568870814	chr14:66734081-66734082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs367615151	chr14:66734115-66734116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557596099	chr14:66734127-66734128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563960735	chr14:66734155-66734156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577880673	chr14:66734201-66734202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116495301	chr14:66734202-66734203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553716219	chr14:66734231-66734232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7143596	chr14:66734255-66734256	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs542788341	chr14:66734268-66734269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145796103	chr14:66734287-66734288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531302304	chr14:66734310-66734311	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs545047667	chr14:66734341-66734342	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs548958637	chr14:66734394-66734395	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs533491790	chr14:66734397-66734398	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs547164278	chr14:66734417-66734418	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs567000693	chr14:66734420-66734421	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373955935	chr14:66734421-66734422	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147767160	chr14:66734451-66734452	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs572915732	chr14:66734493-66734494	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs569247763	chr14:66734497-66734498	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs569025092	chr14:66734511-66734512	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs113422623	chr14:66734525-66734526	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs368407065	chr14:66734570-66734571	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs370407028	chr14:66734582-66734583	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs149229120	chr14:66734607-66734608	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373817484	chr14:66734610-66734611	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs143391918	chr14:66734614-66734615	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs533881042	chr14:66734674-66734675	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs398118304	chr14:66734684-66734685	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs377695670	chr14:66734685-66734686	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs553927635	chr14:66734687-66734688	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs187526550	chr14:66734703-66734704	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs544985346	chr14:66734706-66734707	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs367993475	chr14:66734746-66734747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113257708	chr14:66734750-66734751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542861928	chr14:66734772-66734773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556269286	chr14:66734776-66734777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576235232	chr14:66734799-66734800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545007047	chr14:66734915-66734916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs193286886	chr14:66734961-66734962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533676449	chr14:66734986-66734987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547650417	chr14:66735012-66735013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560849192	chr14:66735058-66735059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66731200-66735000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:66735000-66735800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:66735200-66735600	Enhancers	Brain Substantia Nigra	brain
4	chr14:66735600-66736000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:66735600-66736200	Enhancers	Brain Hippocampus Middle	brain
6	chr14:66735600-66736400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:66735600-66736400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:66735800-66737000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:66735800-66737000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:66736000-66736200	Enhancers	Brain Substantia Nigra	brain
11	chr14:66736000-66736800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:66736200-66739600	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:66736200-66740200	Weak transcription	Brain Substantia Nigra	brain
14	chr14:66736400-66739800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:66739600-66740600	Enhancers	Brain Anterior Caudate	brain
16	chr14:66739600-66740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:66739600-66741000	Enhancers	Brain Hippocampus Middle	brain
18	chr14:66739800-66740200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:66739800-66740600	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:66739800-66740800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:66739800-66740800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr14:66740000-66740600	Enhancers	Brain Angular Gyrus	brain

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