Variant report

Variant	esv3441412
Chromosome Location	chr4:19569804-19571652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192874615	chr4:19569819-19569820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552363459	chr4:19569866-19569867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549638878	chr4:19569883-19569884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569836992	chr4:19569887-19569888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182915680	chr4:19569889-19569890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539501679	chr4:19569941-19569942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147704032	chr4:19569946-19569947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576594457	chr4:19569973-19569974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs5856518	chr4:19569981-19569982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372117589	chr4:19569984-19569985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375366521	chr4:19569985-19569986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367782009	chr4:19569986-19569987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76869363	chr4:19570047-19570048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78949277	chr4:19570066-19570067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62298825	chr4:19570077-19570078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542149936	chr4:19570103-19570104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73099698	chr4:19570172-19570173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369091985	chr4:19570191-19570192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116087986	chr4:19570210-19570211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545878540	chr4:19570223-19570224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187252606	chr4:19570247-19570248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191633735	chr4:19570323-19570324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550104136	chr4:19570356-19570357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373771164	chr4:19570365-19570366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183837667	chr4:19570393-19570394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562346337	chr4:19570438-19570439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189143005	chr4:19570483-19570484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574857007	chr4:19570488-19570489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112459042	chr4:19570503-19570504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28522472	chr4:19570574-19570575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115093772	chr4:19570652-19570653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140287956	chr4:19570690-19570691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551395729	chr4:19570795-19570796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142521319	chr4:19570798-19570799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146827271	chr4:19570826-19570827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79731259	chr4:19570873-19570874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs33923860	chr4:19570875-19570876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199966531	chr4:19570877-19570878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77201828	chr4:19570878-19570879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398092207	chr4:19570880-19570881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117877225	chr4:19570891-19570892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11946411	chr4:19570930-19570931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6850501	chr4:19570941-19570942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139318627	chr4:19570970-19570971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535357726	chr4:19570971-19570972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141584979	chr4:19570982-19570983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185461169	chr4:19570989-19570990	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19569400-19570200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:19569400-19571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:19570200-19570400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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