Variant report

Variant	esv3357897
Chromosome Location	chr4:21715479-21718027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545853085	chr4:21715526-21715527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140140577	chr4:21715529-21715530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372646393	chr4:21715553-21715554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549846226	chr4:21715560-21715561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192809566	chr4:21715574-21715575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557127048	chr4:21715577-21715578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529104376	chr4:21715608-21715609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117632754	chr4:21715647-21715648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34012950	chr4:21715653-21715654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577426830	chr4:21715672-21715673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13123486	chr4:21715692-21715693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534061868	chr4:21715709-21715710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80288434	chr4:21715720-21715721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183846841	chr4:21715772-21715773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143878813	chr4:21715804-21715805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556750837	chr4:21715824-21715825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575223460	chr4:21715825-21715826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115060875	chr4:21715848-21715849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116643567	chr4:21715862-21715863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565126553	chr4:21715876-21715877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28632151	chr4:21715881-21715882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572352443	chr4:21715950-21715951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188732407	chr4:21715953-21715954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541001400	chr4:21715995-21715996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576203911	chr4:21716005-21716006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7674414	chr4:21716012-21716013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7674871	chr4:21716052-21716053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192620177	chr4:21716057-21716058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4697235	chr4:21716112-21716113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77735152	chr4:21716131-21716132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560319842	chr4:21716154-21716155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527583862	chr4:21716161-21716162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368446163	chr4:21716174-21716175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59543484	chr4:21716191-21716192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552439053	chr4:21716227-21716228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570929932	chr4:21716340-21716341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183707947	chr4:21716371-21716372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16871712	chr4:21716395-21716396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201662586	chr4:21716409-21716410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568638377	chr4:21716410-21716411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554618541	chr4:21716411-21716412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201864370	chr4:21716412-21716413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199505663	chr4:21716413-21716414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536180699	chr4:21716416-21716417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375965697	chr4:21716418-21716419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551045888	chr4:21716421-21716422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369159886	chr4:21716423-21716424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529630166	chr4:21716424-21716425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13152122	chr4:21716429-21716430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138680222	chr4:21716431-21716432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21712400-21717400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:21712400-21718400	Weak transcription	Ovary	ovary
3	chr4:21717400-21717800	Enhancers	HUES48 Cell Line	embryonic stem cell

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