Variant report

Variant	esv3356256
Chromosome Location	chr2:183472132-183474680
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	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555392394	chr2:183472167-183472168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190461695	chr2:183472176-183472177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550498809	chr2:183472179-183472180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564019134	chr2:183472202-183472203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373708401	chr2:183472213-183472214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557391458	chr2:183472238-183472239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151285752	chr2:183472258-183472259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543180365	chr2:183472425-183472426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563082058	chr2:183472429-183472430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576576432	chr2:183472457-183472458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542480052	chr2:183472468-183472469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562370232	chr2:183472495-183472496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527643223	chr2:183472497-183472498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183576200	chr2:183472571-183472572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140492043	chr2:183472599-183472600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34095631	chr2:183472674-183472675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533446228	chr2:183472773-183472774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370104246	chr2:183472794-183472795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188957896	chr2:183472853-183472854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191863642	chr2:183472884-183472885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184104867	chr2:183472896-183472897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs66915042	chr2:183472909-183472910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376938277	chr2:183472926-183472927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150037314	chr2:183473043-183473044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534640895	chr2:183473052-183473053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557328312	chr2:183473110-183473111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570943547	chr2:183473147-183473148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34984487	chr2:183473180-183473181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568124431	chr2:183473199-183473200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556800466	chr2:183473200-183473201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576532033	chr2:183473206-183473207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542065330	chr2:183473242-183473243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556034751	chr2:183473245-183473246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372472780	chr2:183473261-183473262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564461230	chr2:183473277-183473278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376353837	chr2:183473280-183473281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6433982	chr2:183473282-183473283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563635384	chr2:183473337-183473338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529045027	chr2:183473398-183473399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548896201	chr2:183473428-183473429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565586416	chr2:183473436-183473437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528353226	chr2:183473443-183473444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551277222	chr2:183473444-183473445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536998752	chr2:183473457-183473458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372624990	chr2:183473469-183473470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186622277	chr2:183473488-183473489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191612697	chr2:183473567-183473568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556975540	chr2:183473582-183473583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567238191	chr2:183473636-183473637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147712997	chr2:183473644-183473645	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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183464000-183473000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:183470200-183480400	Weak transcription	NHLF	lung
4	chr2:183471600-183472400	Enhancers	GM12878-XiMat	blood
5	chr2:183471600-183472800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:183471600-183473000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:183473000-183473400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:183473400-183475000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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