Variant report

Variant	esv3389160
Chromosome Location	chr2:186623457-186625405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528305230	chr2:186623501-186623502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78190257	chr2:186623525-186623526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35896398	chr2:186623526-186623527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568130214	chr2:186623531-186623532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535957034	chr2:186623542-186623543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550616359	chr2:186623562-186623563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142215262	chr2:186623593-186623594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539429823	chr2:186623601-186623602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2216496	chr2:186623620-186623621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573501253	chr2:186623635-186623636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534191505	chr2:186623675-186623676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555935765	chr2:186623729-186623730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574102950	chr2:186623791-186623792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558038046	chr2:186623809-186623810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541993010	chr2:186623813-186623814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186057766	chr2:186623857-186623858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575346316	chr2:186623887-186623888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111535156	chr2:186624006-186624007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146397707	chr2:186624137-186624138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112174448	chr2:186624141-186624142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201843432	chr2:186624144-186624145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563301050	chr2:186624216-186624217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59153366	chr2:186624224-186624225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs13036018	chr2:186624276-186624277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535239841	chr2:186624277-186624278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201958996	chr2:186624328-186624329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201721010	chr2:186624333-186624334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376587227	chr2:186624336-186624337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368969691	chr2:186624337-186624338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528404919	chr2:186624357-186624358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35750344	chr2:186624368-186624369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112032214	chr2:186624377-186624378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552300188	chr2:186624432-186624433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73980269	chr2:186624514-186624515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368941824	chr2:186624527-186624528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189702191	chr2:186624528-186624529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568986091	chr2:186624532-186624533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539517645	chr2:186624598-186624599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551375145	chr2:186624654-186624655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182698010	chr2:186624672-186624673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534509375	chr2:186624728-186624729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199805382	chr2:186624738-186624739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55704275	chr2:186624739-186624740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574506244	chr2:186624748-186624749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555782210	chr2:186624790-186624791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574215445	chr2:186624814-186624815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10931194	chr2:186624828-186624829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs144398957	chr2:186624845-186624846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146634975	chr2:186624916-186624917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541889687	chr2:186624921-186624922	Weak transcription	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
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
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186606800-186632000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:186613600-186635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:186622400-186625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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