Variant report

Variant	nsv85437
Chromosome Location	chr14:105576671-105579595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr14:105577201-105577511	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258154	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201839604	chr14:105576671-105576672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200322014	chr14:105576674-105576675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71403259	chr14:105576678-105576679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138865227	chr14:105576679-105576680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376809049	chr14:105576681-105576682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60715768	chr14:105576683-105576684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376615736	chr14:105576684-105576685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199544466	chr14:105576686-105576687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201246269	chr14:105576687-105576688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56705948	chr14:105576688-105576689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367619058	chr14:105576690-105576691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76840004	chr14:105576691-105576692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587734762	chr14:105576692-105576693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8020975	chr14:105576694-105576695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs56872626	chr14:105576800-105576801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587665264	chr14:105576871-105576872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11489887	chr14:105576898-105576899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112031526	chr14:105576984-105576985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113637233	chr14:105577021-105577022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8021700	chr14:105577099-105577100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11489888	chr14:105577125-105577126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112755295	chr14:105577327-105577328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187836569	chr14:105577374-105577375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540733407	chr14:105577534-105577535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113184954	chr14:105577774-105577775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9671283	chr14:105577880-105577881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113640028	chr14:105578205-105578206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112845048	chr14:105578254-105578255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112519183	chr14:105578370-105578371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368435256	chr14:105578455-105578456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111245782	chr14:105578459-105578460	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369885480	chr14:105578508-105578509	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371809447	chr14:105578597-105578598	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376052949	chr14:105578667-105578668	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7160079	chr14:105578771-105578772	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12050241	chr14:105578782-105578783	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7160102	chr14:105578810-105578811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7160335	chr14:105579084-105579085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55742612	chr14:105579356-105579357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151295382	chr14:105579370-105579371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587744839	chr14:105579436-105579437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199556132	chr14:105579580-105579581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200669051	chr14:105579582-105579583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	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
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105574000-105576800	Weak transcription	Right Atrium	heart
2	chr14:105576400-105581200	Weak transcription	Esophagus	oesophagus
3	chr14:105578400-105578800	Active TSS	HSMM	muscle

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