Variant report

Variant	nsv8793
Chromosome Location	chr11:18932177-18933803
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	POLR2A	chr11:18932695-18932888	A549	lung:	n/a	n/a
2	POLR2A	chr11:18932820-18932838	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:18932518-18932842	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:18932695-18932834	Gliobla	brain:	n/a	n/a
5	POLR2A	chr11:18932698-18932818	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000255536	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535431035	chr11:18932207-18932208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144273037	chr11:18932211-18932212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565918540	chr11:18932233-18932234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57399169	chr11:18932252-18932253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557859181	chr11:18932284-18932285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1552199	chr11:18932316-18932317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536997809	chr11:18932332-18932333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553805043	chr11:18932355-18932356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191998600	chr11:18932382-18932383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542192264	chr11:18932389-18932390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560712782	chr11:18932457-18932458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572275844	chr11:18932508-18932509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546000411	chr11:18932509-18932510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370793267	chr11:18932521-18932522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7120988	chr11:18932525-18932526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531698363	chr11:18932547-18932548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373706404	chr11:18932553-18932554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10833017	chr11:18932558-18932559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561983482	chr11:18932572-18932573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529173778	chr11:18932587-18932588	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18932000-18932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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