Variant report

Variant	esv1808453
Chromosome Location	chr2:183087394-183091601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7567112	chr2:183087394-183087395	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543414386	chr2:183087406-183087407	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563450260	chr2:183087447-183087448	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549440158	chr2:183087462-183087463	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58684572	chr2:183087463-183087464	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397939695	chr2:183087471-183087472	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34461180	chr2:183087503-183087504	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573913950	chr2:183087543-183087544	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569281309	chr2:183087544-183087545	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183608715	chr2:183087547-183087548	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139733331	chr2:183087617-183087618	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189332180	chr2:183087671-183087672	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564196273	chr2:183087717-183087718	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192832629	chr2:183087719-183087720	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184782040	chr2:183087731-183087732	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79501800	chr2:183087747-183087748	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190132148	chr2:183087792-183087793	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114268954	chr2:183087966-183087967	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549406894	chr2:183087978-183087979	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566303866	chr2:183087995-183087996	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1432525	chr2:183088000-183088001	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557910068	chr2:183088037-183088038	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181652194	chr2:183088056-183088057	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35161948	chr2:183088112-183088113	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537128557	chr2:183088138-183088139	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556946306	chr2:183088143-183088144	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377714562	chr2:183088146-183088147	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571676230	chr2:183088171-183088172	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573555933	chr2:183088213-183088214	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542950661	chr2:183088218-183088219	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552954213	chr2:183088224-183088225	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572707134	chr2:183088241-183088242	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377668407	chr2:183088280-183088281	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186233358	chr2:183088331-183088332	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564252505	chr2:183088345-183088346	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149826031	chr2:183088384-183088385	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543527399	chr2:183088417-183088418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563748739	chr2:183088422-183088423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370021650	chr2:183088433-183088434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145838856	chr2:183088442-183088443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73043827	chr2:183088465-183088466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566329916	chr2:183088518-183088519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3754929	chr2:183088584-183088585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs371630386	chr2:183088591-183088592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200135261	chr2:183088661-183088662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201353418	chr2:183088709-183088710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377283034	chr2:183088729-183088730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556773749	chr2:183088746-183088747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73977311	chr2:183088769-183088770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553797987	chr2:183088772-183088773	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183065800-183087600	Weak transcription	Aorta	Aorta
2	chr2:183065800-183087600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:183084400-183090600	Weak transcription	Fetal Kidney	kidney
4	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
5	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:183086400-183088800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:183086400-183089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:183086800-183088400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183086800-183088400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:183087000-183087400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr2:183087000-183088000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:183087000-183088400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:183087400-183089800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:183087600-183088000	Strong transcription	Aorta	Aorta
15	chr2:183087600-183088000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
17	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:183088400-183088800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:183088400-183091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:183088400-183092000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:183088800-183092600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:183089800-183090000	Enhancers	Primary hematopoietic stem cells	blood
23	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