Variant report

Variant	esv2465768
Chromosome Location	chr2:183190834-183192435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35372886	chr2:183190848-183190849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572831664	chr2:183190849-183190850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397791417	chr2:183190854-183190855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188543498	chr2:183190863-183190864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531469032	chr2:183190892-183190893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531091638	chr2:183190914-183190915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548375358	chr2:183190927-183190928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181220501	chr2:183190953-183190954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185714676	chr2:183190990-183190991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188992511	chr2:183191004-183191005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566908123	chr2:183191015-183191016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539014930	chr2:183191056-183191057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371483027	chr2:183191122-183191123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576021489	chr2:183191133-183191134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544535461	chr2:183191138-183191139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79453121	chr2:183191156-183191157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141161219	chr2:183191169-183191170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs865578	chr2:183191174-183191175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182265916	chr2:183191229-183191230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187098217	chr2:183191258-183191259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532051291	chr2:183191343-183191344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545411758	chr2:183191405-183191406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562104517	chr2:183191449-183191450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116757697	chr2:183191459-183191460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369373994	chr2:183191485-183191486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34799454	chr2:183191519-183191520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201494084	chr2:183191521-183191522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548187164	chr2:183191565-183191566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568289158	chr2:183191593-183191594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527481704	chr2:183191601-183191602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs833175	chr2:183191666-183191667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs56377252	chr2:183191741-183191742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192428277	chr2:183191762-183191763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs833174	chr2:183191831-183191832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144868494	chr2:183191910-183191911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569224834	chr2:183191932-183191933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538576598	chr2:183191949-183191950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528862281	chr2:183192049-183192050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554953872	chr2:183192118-183192119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11683479	chr2:183192172-183192173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540447829	chr2:183192178-183192179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs833173	chr2:183192182-183192183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576540653	chr2:183192243-183192244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs833172	chr2:183192270-183192271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562191105	chr2:183192290-183192291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149343665	chr2:183192315-183192316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144736244	chr2:183192344-183192345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111993402	chr2:183192349-183192350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180824598	chr2:183192350-183192351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375002765	chr2:183192374-183192375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183188600-183195400	Weak transcription	Aorta	Aorta
2	chr2:183188800-183197400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:183189400-183195400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183189600-183191800	Weak transcription	Osteobl	bone
5	chr2:183189800-183195200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:183190000-183195200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:183190200-183191200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:183190200-183191200	Weak transcription	Hela-S3	cervix
9	chr2:183190200-183195400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:183191200-183191400	Enhancers	Hela-S3	cervix
11	chr2:183191200-183192000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:183191600-183192000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:183192000-183194600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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