Variant report

Variant	nsv527405
Chromosome Location	chr14:97216433-97220051
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	chr14:97217297..97218852-chr14:97223964..97225978,2	MCF-7	breast:
2	chr14:97211622..97213197-chr14:97215486..97218319,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK1-2	chr14:97219606-97219663	ENSG00000258979

Extended variants
information (count: 147 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4900342	chr14:97216433-97216434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543762117	chr14:97216469-97216470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35981455	chr14:97216470-97216471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144212066	chr14:97216517-97216518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188535769	chr14:97216536-97216537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372707578	chr14:97216553-97216554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559535078	chr14:97216574-97216575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577786438	chr14:97216594-97216595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536566725	chr14:97216611-97216612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55946529	chr14:97216665-97216666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368315729	chr14:97216687-97216688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532282517	chr14:97216712-97216713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531101965	chr14:97216753-97216754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549010039	chr14:97216831-97216832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55909735	chr14:97216890-97216891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs56096836	chr14:97216891-97216892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11622280	chr14:97216894-97216895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147785202	chr14:97216907-97216908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67110488	chr14:97216935-97216936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58755539	chr14:97216936-97216937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398044009	chr14:97216939-97216940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538791663	chr14:97217101-97217102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568155619	chr14:97217125-97217126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11623329	chr14:97217152-97217153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550904732	chr14:97217221-97217222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141225491	chr14:97217238-97217239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55967054	chr14:97217244-97217245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555761611	chr14:97217275-97217276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191849495	chr14:97217327-97217328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56097548	chr14:97217340-97217341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146967937	chr14:97217387-97217388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114064196	chr14:97217454-97217455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546097485	chr14:97217499-97217500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4900343	chr14:97217502-97217503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563536080	chr14:97217517-97217518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576331489	chr14:97217539-97217540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542934892	chr14:97217547-97217548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560953473	chr14:97217567-97217568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528047662	chr14:97217573-97217574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546722161	chr14:97217574-97217575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539105967	chr14:97217581-97217582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564933847	chr14:97217584-97217585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532238172	chr14:97217640-97217641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76476407	chr14:97217655-97217656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188314980	chr14:97217660-97217661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148346701	chr14:97217689-97217690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs207475169	chr14:97217744-97217745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536586137	chr14:97217769-97217770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72708790	chr14:97217794-97217795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567651070	chr14:97217805-97217806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97215200-97219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:97216200-97216600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:97218600-97219400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:97218600-97219800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:97218800-97219200	Enhancers	K562	blood
6	chr14:97218800-97219600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:97219200-97221000	Weak transcription	K562	blood
8	chr14:97219400-97219600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:97219600-97221400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:97219600-97222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:97219800-97223800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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