Variant report

Variant	esv3458812
Chromosome Location	chr2:183090302-183091714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574573457	chr2:183090322-183090323	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16822889	chr2:183090352-183090353	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376618437	chr2:183090361-183090362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10930994	chr2:183090370-183090371	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549357836	chr2:183090398-183090399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34418595	chr2:183090417-183090418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545396186	chr2:183090462-183090463	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138608010	chr2:183090517-183090518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116469859	chr2:183090570-183090571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183272669	chr2:183090635-183090636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577443948	chr2:183090691-183090692	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562989714	chr2:183090708-183090709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187689662	chr2:183090735-183090736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35247872	chr2:183090748-183090749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530304858	chr2:183090756-183090757	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192404757	chr2:183090766-183090767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1432533	chr2:183090830-183090831	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559768285	chr2:183090865-183090866	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532001092	chr2:183090997-183090998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184745161	chr2:183091009-183091010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568813914	chr2:183091014-183091015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141719386	chr2:183091042-183091043	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548457083	chr2:183091086-183091087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372376090	chr2:183091178-183091179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534220457	chr2:183091222-183091223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12999222	chr2:183091239-183091240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189508841	chr2:183091264-183091265	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4503956	chr2:183091299-183091300	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566939963	chr2:183091323-183091324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539121501	chr2:183091332-183091333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16822892	chr2:183091410-183091411	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575589302	chr2:183091432-183091433	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544617138	chr2:183091433-183091434	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191874886	chr2:183091448-183091449	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574935414	chr2:183091468-183091469	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540398861	chr2:183091475-183091476	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184527646	chr2:183091513-183091514	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563329608	chr2:183091514-183091515	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529431447	chr2:183091533-183091534	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145583060	chr2:183091561-183091562	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59691598	chr2:183091619-183091620	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138101704	chr2:183091638-183091639	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189239212	chr2:183091650-183091651	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556047524	chr2:183091660-183091661	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142768202	chr2:183091678-183091679	Strong transcription Weak transcription 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183084400-183090600	Weak transcription	Fetal Kidney	kidney
2	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
3	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
5	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:183088400-183091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:183088400-183092000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:183088800-183092600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:183091400-183093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links