Variant report

Variant	esv1971875
Chromosome Location	chr2:31808512-31808927
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	TEAD4	chr2:31808917-31809323	K562	blood:	n/a	n/a

Variant related genes	Relation type
SRD5A2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189338643	chr2:31808533-31808534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181995565	chr2:31808602-31808603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540654876	chr2:31808619-31808620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150999237	chr2:31808648-31808649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548406938	chr2:31808655-31808656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75584848	chr2:31808682-31808683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564405810	chr2:31808698-31808699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373996351	chr2:31808707-31808708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138287024	chr2:31808708-31808709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10221708	chr2:31808720-31808721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76149788	chr2:31808721-31808722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114777141	chr2:31808753-31808754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536071224	chr2:31808798-31808799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140884236	chr2:31808799-31808800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556024190	chr2:31808806-31808807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs675222	chr2:31808820-31808821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs510829	chr2:31808862-31808863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565230966	chr2:31808884-31808885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371782977	chr2:31808891-31808892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72867544	chr2:31808895-31808896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533019124	chr2:31808922-31808923	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31806600-31811800	Weak transcription	Liver	Liver
2	chr2:31808600-31809400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:31808800-31809000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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