Variant report

Variant	esv3464970
Chromosome Location	chr4:28511982-28513203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574941247	chr4:28511994-28511995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537462038	chr4:28512006-28512007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368295898	chr4:28512023-28512024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372612059	chr4:28512045-28512046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551271322	chr4:28512070-28512071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567981216	chr4:28512085-28512086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149881698	chr4:28512182-28512183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553580544	chr4:28512223-28512224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573361529	chr4:28512233-28512234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538689906	chr4:28512282-28512283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1399128	chr4:28512368-28512369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76974093	chr4:28512369-28512370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543834054	chr4:28512414-28512415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1399127	chr4:28512425-28512426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574718869	chr4:28512429-28512430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574927789	chr4:28512435-28512436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540157855	chr4:28512442-28512443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560252958	chr4:28512495-28512496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532222276	chr4:28512524-28512525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73213498	chr4:28512541-28512542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545487073	chr4:28512542-28512543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79650881	chr4:28512561-28512562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28433500	chr4:28512571-28512572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562285211	chr4:28512602-28512603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183336923	chr4:28512673-28512674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186281650	chr4:28512779-28512780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530373937	chr4:28512783-28512784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546990142	chr4:28512806-28512807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199591368	chr4:28512830-28512831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3897959	chr4:28512841-28512842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554534300	chr4:28512906-28512907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144870233	chr4:28512930-28512931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141116834	chr4:28512946-28512947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190458991	chr4:28512963-28512964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535996550	chr4:28512976-28512977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1399126	chr4:28512980-28512981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182717848	chr4:28513032-28513033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148525395	chr4:28513046-28513047	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	chr4:28500000-28520400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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