Variant report

Variant	nsv819438
Chromosome Location	chr2:184916897-184921503
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	chr2:184912047..184914339-chr2:184920251..184922301,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544556495	chr2:184916940-184916941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187585922	chr2:184916941-184916942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192008642	chr2:184916968-184916969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142847193	chr2:184916975-184916976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560374458	chr2:184916984-184916985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532301335	chr2:184917001-184917002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78894219	chr2:184917010-184917011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529404934	chr2:184917043-184917044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568887750	chr2:184917061-184917062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531248792	chr2:184917077-184917078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184947230	chr2:184917078-184917079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189276642	chr2:184917092-184917093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536531426	chr2:184917125-184917126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576346025	chr2:184917135-184917136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549177876	chr2:184917196-184917197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553215075	chr2:184917205-184917206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193093732	chr2:184917215-184917216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374059498	chr2:184917357-184917358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539173822	chr2:184917444-184917445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55714917	chr2:184917471-184917472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575686819	chr2:184917472-184917473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34599504	chr2:184917473-184917474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554983056	chr2:184917488-184917489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574538702	chr2:184917497-184917498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184642996	chr2:184917548-184917549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560458782	chr2:184917602-184917603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189111049	chr2:184917631-184917632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144679023	chr2:184917655-184917656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148078637	chr2:184917725-184917726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531413285	chr2:184917782-184917783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547814583	chr2:184917824-184917825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561361359	chr2:184917891-184917892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13399546	chr2:184917904-184917905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112596132	chr2:184917923-184917924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141911432	chr2:184917975-184917976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181515954	chr2:184918009-184918010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538905381	chr2:184918039-184918040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185358361	chr2:184918092-184918093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78114180	chr2:184918137-184918138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189003656	chr2:184918206-184918207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377175121	chr2:184918207-184918208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567317341	chr2:184918208-184918209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368805117	chr2:184918241-184918242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79584604	chr2:184918269-184918270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35193867	chr2:184918276-184918277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181401310	chr2:184918320-184918321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374036259	chr2:184918347-184918348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554117793	chr2:184918365-184918366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186275942	chr2:184918367-184918368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545706754	chr2:184918393-184918394	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184912800-184918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:184918000-184918400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:184918000-184918400	Enhancers	Small Intestine	intestine
4	chr2:184918000-184918600	Enhancers	Fetal Heart	heart

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