Variant report

Variant	esv3421989
Chromosome Location	chr20:23690352-23694650
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	MYC	chr20:23694140-23694278	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr20:23693747-23693809	GM12878	blood:	n/a	n/a
3	STAT3	chr20:23693470-23694013	MCF10A-Er-Src	breast:	n/a	n/a
4	SUZ12	chr20:23692052-23692201	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr20:23692011-23692378	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CST2P1	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146717080	chr20:23692053-23692054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528106694	chr20:23692054-23692055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199526974	chr20:23692067-23692068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549532977	chr20:23692107-23692108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569598519	chr20:23692120-23692121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs13044018	chr20:23692121-23692122	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556049373	chr20:23692128-23692129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs76675555	chr20:23692134-23692135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs397814444	chr20:23692146-23692147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140355665	chr20:23692151-23692152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs184011892	chr20:23692182-23692183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558316956	chr20:23692187-23692188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376321992	chr20:23692218-23692219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150371787	chr20:23692219-23692220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373398047	chr20:23692227-23692228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111569560	chr20:23692253-23692254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563539472	chr20:23692261-23692262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373327051	chr20:23692262-23692263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs542606877	chr20:23692270-23692271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73104372	chr20:23692287-23692288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73104373	chr20:23692289-23692290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs377471664	chr20:23692295-23692296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571126462	chr20:23692304-23692305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116394265	chr20:23692332-23692333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564277507	chr20:23692351-23692352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145132998	chr20:23692363-23692364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188512336	chr20:23692374-23692375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569672549	chr20:23692375-23692376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs559528166	chr20:23693495-23693496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528156761	chr20:23693512-23693513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs7269598	chr20:23693575-23693576	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143246055	chr20:23693585-23693586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs146705016	chr20:23693611-23693612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550820703	chr20:23693629-23693630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139296053	chr20:23693633-23693634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs142640991	chr20:23693653-23693654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182267717	chr20:23693675-23693676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs566990590	chr20:23693680-23693681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs538736736	chr20:23693684-23693685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552563922	chr20:23693686-23693687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11698815	chr20:23693689-23693690	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569694428	chr20:23693705-23693706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557249067	chr20:23693708-23693709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369555421	chr20:23693712-23693713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs118171357	chr20:23693715-23693716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536482539	chr20:23693725-23693726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140861762	chr20:23693730-23693731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149749845	chr20:23693780-23693781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs544742033	chr20:23693781-23693782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs564905327	chr20:23693789-23693790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23694000-23694400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:23694200-23694600	Enhancers	HMEC	breast

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