Variant report

Variant	esv3693449
Chromosome Location	chr2:189569061-189579045
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: 52 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1395866	chr2:189569061-189569062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs698559	chr2:189569075-189569076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531341019	chr2:189569170-189569171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181132720	chr2:189569183-189569184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571557071	chr2:189569203-189569204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201742394	chr2:189569246-189569247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532496476	chr2:189569270-189569271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547595246	chr2:189569288-189569289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142358334	chr2:189569345-189569346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534005521	chr2:189569392-189569393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555853940	chr2:189569398-189569399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144625671	chr2:189569410-189569411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200127449	chr2:189569424-189569425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200835141	chr2:189569425-189569426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201309821	chr2:189569446-189569447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538227002	chr2:189569447-189569448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556183049	chr2:189569489-189569490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554900974	chr2:189569560-189569561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577891972	chr2:189569578-189569579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573659824	chr2:189569677-189569678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138525572	chr2:189569681-189569682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185621345	chr2:189569709-189569710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572325783	chr2:189569744-189569745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373552620	chr2:189569785-189569786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545176455	chr2:189569824-189569825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376893285	chr2:189569827-189569828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74364741	chr2:189569883-189569884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72902608	chr2:189569901-189569902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531347469	chr2:189569902-189569903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543402652	chr2:189569913-189569914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564905650	chr2:189569924-189569925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532434578	chr2:189569933-189569934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150793615	chr2:189569972-189569973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559562532	chr2:189569993-189569994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529907784	chr2:189569996-189569997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139154772	chr2:189570012-189570013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369234823	chr2:189570046-189570047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191004322	chr2:189570067-189570068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182357569	chr2:189570089-189570090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549749008	chr2:189570124-189570125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571322823	chr2:189570128-189570129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149502669	chr2:189570279-189570280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554045303	chr2:189570301-189570302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs698560	chr2:189570335-189570336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186120479	chr2:189570379-189570380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75036885	chr2:189570388-189570389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191840016	chr2:189570402-189570403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543190455	chr2:189570405-189570406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564843014	chr2:189570422-189570423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144288045	chr2:189570487-189570488	Enhancers	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189561200-189569400	Weak transcription	NHDF-Ad	bronchial
2	chr2:189567000-189570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:189569400-189570400	Enhancers	NHDF-Ad	bronchial
4	chr2:189570200-189570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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