Variant report

Variant	esv2760912
Chromosome Location	chr4:21082551-21085342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563886276	chr4:21083855-21083856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575979142	chr4:21083866-21083867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573571037	chr4:21083939-21083940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10017733	chr4:21083972-21083973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189038226	chr4:21083975-21083976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6821010	chr4:21083978-21083979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555714542	chr4:21083989-21083990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180830260	chr4:21084078-21084079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151062105	chr4:21084152-21084153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141312413	chr4:21084185-21084186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536569371	chr4:21084237-21084238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550327718	chr4:21084263-21084264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116125058	chr4:21084273-21084274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62293805	chr4:21084275-21084276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575561901	chr4:21084283-21084284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537394735	chr4:21084308-21084309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186070295	chr4:21084319-21084320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375919635	chr4:21084340-21084341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191412953	chr4:21084355-21084356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145100674	chr4:21084360-21084361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534684808	chr4:21084361-21084362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564241953	chr4:21084369-21084370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138932192	chr4:21084395-21084396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182555362	chr4:21084428-21084429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185677444	chr4:21084482-21084483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71182707	chr4:21084488-21084489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370880529	chr4:21084489-21084490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557542170	chr4:21084491-21084492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575757904	chr4:21084493-21084494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140567993	chr4:21084496-21084497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190584820	chr4:21084501-21084502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71894972	chr4:21084526-21084527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142490779	chr4:21084535-21084536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397992490	chr4:21084536-21084537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34184352	chr4:21084564-21084565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543246094	chr4:21084571-21084572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11931825	chr4:21084621-21084622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114819566	chr4:21084624-21084625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150469531	chr4:21084675-21084676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564555386	chr4:21084698-21084699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559169344	chr4:21084699-21084700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183112968	chr4:21084705-21084706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543907416	chr4:21084723-21084724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562303842	chr4:21084737-21084738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554868466	chr4:21084748-21084749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529842128	chr4:21084755-21084756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540134091	chr4:21084766-21084767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188981691	chr4:21084773-21084774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111505200	chr4:21084808-21084809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138331827	chr4:21084810-21084811	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21083800-21085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21084600-21085800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:21085000-21085600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:21085000-21085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:21085000-21086000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:21085200-21085600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:21085200-21085800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:21085200-21085800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:21085200-21086000	Enhancers	HUVEC	blood vessel

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