Variant report

Variant	esv3356262
Chromosome Location	chr4:28432254-28433252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 55 )

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	rs115141016	chr4:28432290-28432291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561800993	chr4:28432299-28432300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527259839	chr4:28432331-28432332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547125192	chr4:28432340-28432341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538541341	chr4:28432380-28432381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529623522	chr4:28432390-28432391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192194818	chr4:28432398-28432399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371907234	chr4:28432430-28432431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549667425	chr4:28432444-28432445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7654383	chr4:28432456-28432457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143117972	chr4:28432473-28432474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59727744	chr4:28432533-28432534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13101838	chr4:28432535-28432536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7654279	chr4:28432537-28432538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535280848	chr4:28432539-28432540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548259346	chr4:28432541-28432542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71187895	chr4:28432555-28432556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569382918	chr4:28432587-28432588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184445247	chr4:28432616-28432617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13129691	chr4:28432636-28432637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13129693	chr4:28432638-28432639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13135001	chr4:28432647-28432648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373139652	chr4:28432649-28432650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13135014	chr4:28432668-28432669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13135032	chr4:28432688-28432689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114655948	chr4:28432709-28432710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13135069	chr4:28432724-28432725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553842530	chr4:28432750-28432751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13135235	chr4:28432754-28432755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13135240	chr4:28432768-28432769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369610234	chr4:28432771-28432772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577174418	chr4:28432812-28432813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13135274	chr4:28432822-28432823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13135275	chr4:28432825-28432826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540112136	chr4:28432849-28432850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13135440	chr4:28432855-28432856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556912292	chr4:28432865-28432866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2309792	chr4:28432868-28432869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2871337	chr4:28432886-28432887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561764434	chr4:28432927-28432928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376999763	chr4:28432946-28432947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143728895	chr4:28432958-28432959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541129528	chr4:28432992-28432993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563879232	chr4:28433041-28433042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181433764	chr4:28433049-28433050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148107667	chr4:28433138-28433139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549626681	chr4:28433142-28433143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186538339	chr4:28433176-28433177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556974461	chr4:28433196-28433197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534657738	chr4:28433203-28433204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28429200-28445000	Weak transcription	Muscle Satellite Cultured Cells	--

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