Variant report

Variant	esv2585348
Chromosome Location	chr2:151902375-151903681
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	chr2:151895774..151898411-chr2:151900217..151902531,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559179274	chr2:151902429-151902430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528308203	chr2:151902452-151902453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544785271	chr2:151902453-151902454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112261853	chr2:151902456-151902457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112766454	chr2:151902479-151902480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142016538	chr2:151902512-151902513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189914734	chr2:151902523-151902524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111531759	chr2:151902535-151902536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573619663	chr2:151902562-151902563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79464642	chr2:151902566-151902567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182531436	chr2:151902574-151902575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141850562	chr2:151902581-151902582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188277915	chr2:151902592-151902593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13034178	chr2:151902601-151902602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559178188	chr2:151902655-151902656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72995550	chr2:151902688-151902689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139203880	chr2:151902707-151902708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192798256	chr2:151902715-151902716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1485131	chr2:151902730-151902731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542204254	chr2:151902757-151902758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552879901	chr2:151902782-151902783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536119371	chr2:151902844-151902845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143772920	chr2:151902963-151902964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147191751	chr2:151902988-151902989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185245194	chr2:151902990-151902991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530573793	chr2:151902994-151902995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544701671	chr2:151902998-151902999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533418017	chr2:151903090-151903091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536045293	chr2:151903092-151903093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561218338	chr2:151903093-151903094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530165858	chr2:151903094-151903095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201922934	chr2:151903356-151903357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200395041	chr2:151903357-151903358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188510344	chr2:151903359-151903360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546993886	chr2:151903379-151903380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567204457	chr2:151903499-151903500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373851703	chr2:151903513-151903514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192404500	chr2:151903521-151903522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552566255	chr2:151903566-151903567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557609668	chr2:151903574-151903575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184772956	chr2:151903677-151903678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151891400-151906400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:151897000-151905800	Weak transcription	NHLF	lung
3	chr2:151897000-151906000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:151897000-151906000	Weak transcription	NHDF-Ad	bronchial
5	chr2:151898000-151906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:151899800-151905800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:151900400-151905800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:151900400-151905800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:151900600-151905600	Weak transcription	Osteobl	bone
10	chr2:151901000-151905800	Weak transcription	HMEC	breast
11	chr2:151901000-151906000	Weak transcription	NHEK	skin

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