Variant report

Variant	esv3323574
Chromosome Location	chr2:183315057-183317155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550038942	chr2:183315070-183315071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569872721	chr2:183315122-183315123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80136761	chr2:183315146-183315147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548688063	chr2:183315151-183315152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568430705	chr2:183315159-183315160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534235903	chr2:183315203-183315204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201599126	chr2:183315281-183315282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs36059127	chr2:183315283-183315284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397831312	chr2:183315294-183315295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147870675	chr2:183315323-183315324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75265531	chr2:183315325-183315326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577165502	chr2:183315365-183315366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140012638	chr2:183315368-183315369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556400126	chr2:183315370-183315371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371417833	chr2:183315448-183315449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376832541	chr2:183315454-183315455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193186613	chr2:183315493-183315494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542024055	chr2:183315511-183315512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561853848	chr2:183315518-183315519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75832645	chr2:183315521-183315522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80190285	chr2:183315522-183315523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572023950	chr2:183315530-183315531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185511430	chr2:183315585-183315586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190829953	chr2:183315586-183315587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149503820	chr2:183315595-183315596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374287211	chr2:183315597-183315598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555139005	chr2:183315615-183315616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149999800	chr2:183315639-183315640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550099732	chr2:183315640-183315641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115148011	chr2:183315653-183315654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537666292	chr2:183315666-183315667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114856029	chr2:183315709-183315710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180692546	chr2:183315719-183315720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2368252	chr2:183315726-183315727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374914950	chr2:183315734-183315735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570522514	chr2:183315735-183315736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75436263	chr2:183315783-183315784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183838790	chr2:183315791-183315792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79854433	chr2:183315807-183315808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539401977	chr2:183315823-183315824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556454390	chr2:183315824-183315825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111782621	chr2:183315831-183315832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577693685	chr2:183315919-183315920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200481194	chr2:183316121-183316122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112771184	chr2:183316148-183316149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7601239	chr2:183316163-183316164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34103461	chr2:183316191-183316192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs553529109	chr2:183316192-183316193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13387691	chr2:183316204-183316205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13387701	chr2:183316235-183316236	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183313000-183321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:183313000-183342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:183313800-183315800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:183313800-183320800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:183314800-183315400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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