Variant report

Variant	esv3364273
Chromosome Location	chr14:85414983-85415206
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	SMC3	chr14:85415035-85415042	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258506	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144467125	chr14:85415007-85415008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs698011	chr14:85415023-85415024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12590636	chr14:85415029-85415030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563643977	chr14:85415033-85415034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531082164	chr14:85415034-85415035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552512992	chr14:85415051-85415052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555082300	chr14:85415061-85415062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181616701	chr14:85415069-85415070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs931142	chr14:85415142-85415143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528674137	chr14:85415152-85415153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs931141	chr14:85415156-85415157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568121364	chr14:85415164-85415165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535444197	chr14:85415171-85415172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556967325	chr14:85415177-85415178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186241679	chr14:85415181-85415182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112813944	chr14:85415188-85415189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202096794	chr14:85415196-85415197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563680031	chr14:85415199-85415200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539753260	chr14:85415205-85415206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Myelofibrosis	22110671	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
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85414000-85421600	Weak transcription	Pancreas	Pancrea
2	chr14:85414800-85415200	Enhancers	Pancreatic Islets	Pancreatic Islet

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