Variant report

Variant	esv3373785
Chromosome Location	chr2:168454206-168458804
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	chr2:168432443..168434147-chr2:168458240..168461184,2	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112670106	chr2:168454238-168454239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144420036	chr2:168454254-168454255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148485343	chr2:168454270-168454271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79404706	chr2:168454294-168454295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372702126	chr2:168454386-168454387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188493482	chr2:168454391-168454392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199542747	chr2:168454407-168454408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556615614	chr2:168454410-168454411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576469704	chr2:168454439-168454440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545404368	chr2:168454450-168454451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565263353	chr2:168454459-168454460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553170786	chr2:168454487-168454488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373254306	chr2:168454494-168454495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527781770	chr2:168454521-168454522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142670385	chr2:168454522-168454523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192982983	chr2:168454530-168454531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530349017	chr2:168454537-168454538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550028929	chr2:168454539-168454540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576483660	chr2:168454597-168454598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13415003	chr2:168454602-168454603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532009342	chr2:168454629-168454630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546128272	chr2:168454688-168454689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552149644	chr2:168454692-168454693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565680200	chr2:168454705-168454706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376981190	chr2:168454768-168454769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78518225	chr2:168454774-168454775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554467757	chr2:168454794-168454795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139915623	chr2:168454821-168454822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537356839	chr2:168454864-168454865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116006207	chr2:168454906-168454907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530063256	chr2:168454914-168454915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577187153	chr2:168454923-168454924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183261407	chr2:168454928-168454929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558900801	chr2:168454985-168454986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572457086	chr2:168454997-168454998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1653432	chr2:168455042-168455043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187262666	chr2:168455065-168455066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541787880	chr2:168455076-168455077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543589497	chr2:168455118-168455119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76836352	chr2:168455132-168455133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191353557	chr2:168455149-168455150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144347451	chr2:168455167-168455168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565620935	chr2:168455171-168455172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528193904	chr2:168455172-168455173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548232744	chr2:168455185-168455186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76042190	chr2:168455202-168455203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16853841	chr2:168455204-168455205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550791027	chr2:168455275-168455276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570800184	chr2:168455342-168455343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76296755	chr2:168455365-168455366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168451800-168458000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168452600-168463400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:168455400-168457000	Enhancers	Fetal Lung	lung
4	chr2:168455800-168456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:168456200-168458600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:168456600-168457000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:168458000-168458400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:168458200-168459600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr2:168458400-168463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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