Variant report

Variant	esv3509146
Chromosome Location	chr4:21530191-21530541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115820642	chr4:21530217-21530218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111954725	chr4:21530226-21530227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184121188	chr4:21530232-21530233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188325989	chr4:21530243-21530244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527674332	chr4:21530245-21530246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569777189	chr4:21530246-21530247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181153867	chr4:21530247-21530248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549340310	chr4:21530269-21530270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6813856	chr4:21530294-21530295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201801139	chr4:21530298-21530299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113583320	chr4:21530302-21530303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566180725	chr4:21530307-21530308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530183963	chr4:21530308-21530309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6814028	chr4:21530343-21530344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539521482	chr4:21530345-21530346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13105163	chr4:21530351-21530352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558210800	chr4:21530353-21530354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576599081	chr4:21530357-21530358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35432462	chr4:21530359-21530360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3967120	chr4:21530362-21530363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550024037	chr4:21530381-21530382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34656518	chr4:21530395-21530396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200338249	chr4:21530403-21530404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367673255	chr4:21530407-21530408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57121864	chr4:21530411-21530412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200689772	chr4:21530415-21530416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3967121	chr4:21530419-21530420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4435738	chr4:21530423-21530424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59209077	chr4:21530427-21530428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368034389	chr4:21530431-21530432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187015606	chr4:21530435-21530436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199526174	chr4:21530438-21530439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191808824	chr4:21530439-21530440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58743158	chr4:21530447-21530448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200652163	chr4:21530448-21530449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202065439	chr4:21530453-21530454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543605664	chr4:21530481-21530482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80063305	chr4:21530492-21530493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11722111	chr4:21530495-21530496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575942065	chr4:21530500-21530501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4560397	chr4:21530517-21530518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540638791	chr4:21530528-21530529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559056931	chr4:21530529-21530530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21528200-21536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21530400-21531800	Enhancers	HUVEC	blood vessel

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