Variant report

Variant	esv1841974
Chromosome Location	chr10:57761280-57778647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57757077..57758579-chr10:57764722..57766777,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74136776	chr10:57768042-57768043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138834534	chr10:57768046-57768047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1500764	chr10:57768107-57768108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371826372	chr10:57768109-57768110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149346164	chr10:57768123-57768124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112291030	chr10:57768149-57768150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540110606	chr10:57768152-57768153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1500765	chr10:57768208-57768209	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576203426	chr10:57768239-57768240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12251757	chr10:57768266-57768267	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555403193	chr10:57768387-57768388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183246782	chr10:57768413-57768414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74136777	chr10:57768418-57768419	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564494024	chr10:57768431-57768432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568341516	chr10:57768464-57768465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187601250	chr10:57768465-57768466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191012211	chr10:57768492-57768493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183166661	chr10:57768505-57768506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563493771	chr10:57768514-57768515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529064212	chr10:57768520-57768521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188192461	chr10:57768576-57768577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533839278	chr10:57768597-57768598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570441356	chr10:57771839-57771840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565495601	chr10:57771864-57771865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199624780	chr10:57771870-57771871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11005176	chr10:57771939-57771940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551099268	chr10:57771940-57771941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567808887	chr10:57772005-57772006	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530210669	chr10:57772033-57772034	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10825728	chr10:57772045-57772046	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566734541	chr10:57772061-57772062	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114910709	chr10:57772105-57772106	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187396356	chr10:57772193-57772194	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547795774	chr10:57772215-57772216	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568718897	chr10:57772233-57772234	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs565756238	chr10:57772244-57772245	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537600645	chr10:57772266-57772267	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143359601	chr10:57772275-57772276	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs56063008	chr10:57772279-57772280	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200626081	chr10:57772357-57772358	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192088288	chr10:57772362-57772363	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372751215	chr10:57772400-57772401	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs59891106	chr10:57772498-57772499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398054379	chr10:57772509-57772510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56137756	chr10:57772597-57772598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10763295	chr10:57772656-57772657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545693837	chr10:57772661-57772662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140509068	chr10:57772668-57772669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576081261	chr10:57772710-57772711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201716170	chr10:57772746-57772747	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57768000-57768200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:57768200-57768600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:57771800-57772800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:57772000-57772400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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