Variant report

Variant	esv3460378
Chromosome Location	chr2:189566007-189571105
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	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561816393	chr2:189566036-189566037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116102122	chr2:189566118-189566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533807434	chr2:189566137-189566138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527929384	chr2:189566140-189566141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2660921	chr2:189566141-189566142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116789888	chr2:189566194-189566195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537632173	chr2:189566272-189566273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541007103	chr2:189566386-189566387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559115778	chr2:189566463-189566464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556367938	chr2:189566506-189566507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11889402	chr2:189566525-189566526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs202033800	chr2:189566596-189566597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546351959	chr2:189566644-189566645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147874412	chr2:189566697-189566698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564440909	chr2:189566726-189566727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367685259	chr2:189566762-189566763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114033729	chr2:189566776-189566777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540883971	chr2:189566798-189566799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562256042	chr2:189566878-189566879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199910554	chr2:189566909-189566910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529633117	chr2:189566921-189566922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561612072	chr2:189566926-189566927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547667226	chr2:189566928-189566929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551230119	chr2:189566951-189566952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569623630	chr2:189566974-189566975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77901026	chr2:189567039-189567040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190905823	chr2:189567080-189567081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530574380	chr2:189567095-189567096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184008497	chr2:189567096-189567097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372918330	chr2:189567196-189567197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551082177	chr2:189567220-189567221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72900899	chr2:189567263-189567264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567741724	chr2:189567281-189567282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533551975	chr2:189567332-189567333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548608715	chr2:189567355-189567356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368310608	chr2:189567455-189567456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115449105	chr2:189567463-189567464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538166402	chr2:189567513-189567514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371802726	chr2:189567516-189567517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188961415	chr2:189567628-189567629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556067902	chr2:189567643-189567644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141908165	chr2:189567669-189567670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72900902	chr2:189567678-189567679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368193630	chr2:189567718-189567719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574710376	chr2:189567722-189567723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116166854	chr2:189567731-189567732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139267449	chr2:189567738-189567739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540625180	chr2:189567771-189567772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561260301	chr2:189567801-189567802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80302113	chr2:189567828-189567829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189561200-189569400	Weak transcription	NHDF-Ad	bronchial
2	chr2:189561800-189566400	Weak transcription	NH-A	brain
3	chr2:189562400-189566800	Weak transcription	Dnd41	blood
4	chr2:189566400-189567000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189566400-189567000	Enhancers	NH-A	brain
6	chr2:189566600-189567200	Enhancers	HUVEC	blood vessel
7	chr2:189566800-189567200	Enhancers	Dnd41	blood
8	chr2:189567000-189570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189569400-189570400	Enhancers	NHDF-Ad	bronchial
10	chr2:189570200-189570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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