Variant report

Variant	nsv435770
Chromosome Location	chr3:20562337-20568531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:

Extended variants
information (count: 209 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547456414	chr3:20562412-20562413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565749710	chr3:20562422-20562423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536228905	chr3:20562426-20562427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368091508	chr3:20562431-20562432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548889564	chr3:20562465-20562466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143174732	chr3:20562471-20562472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1911005	chr3:20562480-20562481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs180920401	chr3:20562496-20562497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577487288	chr3:20562498-20562499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538755540	chr3:20562564-20562565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374766969	chr3:20562565-20562566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114222442	chr3:20562574-20562575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542255683	chr3:20562607-20562608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185272040	chr3:20562615-20562616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576267058	chr3:20562621-20562622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543654844	chr3:20562681-20562682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564759545	chr3:20562753-20562754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532140023	chr3:20562835-20562836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191448775	chr3:20562859-20562860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559396506	chr3:20562951-20562952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530079407	chr3:20562963-20562964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115361110	chr3:20562968-20562969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569989779	chr3:20562977-20562978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370644065	chr3:20562979-20562980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552804153	chr3:20562987-20562988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571092858	chr3:20562998-20562999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553956788	chr3:20563008-20563009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565771213	chr3:20563012-20563013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34101715	chr3:20563023-20563024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536304304	chr3:20563041-20563042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554271312	chr3:20563043-20563044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181686914	chr3:20563051-20563052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532230124	chr3:20563077-20563078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552268874	chr3:20563102-20563103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187150824	chr3:20563123-20563124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558413891	chr3:20563134-20563135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576653458	chr3:20563175-20563176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191903355	chr3:20563211-20563212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559459379	chr3:20563224-20563225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368613042	chr3:20563227-20563228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530142267	chr3:20563273-20563274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372451501	chr3:20563329-20563330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563549837	chr3:20563351-20563352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528672995	chr3:20563404-20563405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183529412	chr3:20563444-20563445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148278783	chr3:20563452-20563453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373327167	chr3:20563455-20563456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9852349	chr3:20563474-20563475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141396673	chr3:20563567-20563568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528031459	chr3:20563584-20563585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20559400-20569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:20565000-20565400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:20565000-20565400	ZNF genes & repeats	Pancreas	Pancrea

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