Variant report

Variant	esv3390194
Chromosome Location	chr4:7562999-7563462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531627850	chr4:7563029-7563030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12503877	chr4:7563063-7563064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150395150	chr4:7563119-7563120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192035985	chr4:7563126-7563127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138157060	chr4:7563142-7563143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141384105	chr4:7563143-7563144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533870511	chr4:7563162-7563163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368949243	chr4:7563222-7563223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386671254	chr4:7563227-7563228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374506903	chr4:7563228-7563229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73214662	chr4:7563229-7563230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370251519	chr4:7563231-7563232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114352613	chr4:7563238-7563239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367547674	chr4:7563243-7563244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573553537	chr4:7563250-7563251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147963671	chr4:7563309-7563310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386671255	chr4:7563312-7563313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116825469	chr4:7563315-7563316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114877610	chr4:7563320-7563321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372314005	chr4:7563326-7563327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371723405	chr4:7563327-7563328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386671256	chr4:7563331-7563332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373190758	chr4:7563337-7563338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376248223	chr4:7563338-7563339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372556865	chr4:7563344-7563345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377547400	chr4:7563345-7563346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372009606	chr4:7563348-7563349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115770120	chr4:7563359-7563360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560372177	chr4:7563362-7563363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572160405	chr4:7563378-7563379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111203700	chr4:7563406-7563407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56345748	chr4:7563411-7563412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs13121297	chr4:7563434-7563435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28545087	chr4:7563442-7563443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561228650	chr4:7563452-7563453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377117142	chr4:7563453-7563454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7558200-7565400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:7562600-7565200	Weak transcription	HepG2	liver
3	chr4:7562600-7565600	Weak transcription	Liver	Liver
4	chr4:7563200-7563400	Enhancers	Fetal Kidney	kidney
5	chr4:7563400-7567200	Weak transcription	Fetal Kidney	kidney

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