Variant report

Variant	esv3407168
Chromosome Location	chr2:205511107-205514405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530188030	chr2:205511118-205511119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200184778	chr2:205511139-205511140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534880044	chr2:205511150-205511151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550040487	chr2:205511160-205511161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556308066	chr2:205511174-205511175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552659430	chr2:205511234-205511235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577273217	chr2:205511235-205511236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542901972	chr2:205511266-205511267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561525464	chr2:205511280-205511281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184579764	chr2:205511298-205511299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149218145	chr2:205511302-205511303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538668586	chr2:205511304-205511305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565211196	chr2:205511334-205511335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58858166	chr2:205511338-205511339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143415445	chr2:205511368-205511369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562645853	chr2:205511391-205511392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530207342	chr2:205511429-205511430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548124427	chr2:205511472-205511473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112343162	chr2:205511496-205511497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138507811	chr2:205511535-205511536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552518853	chr2:205511553-205511554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186662359	chr2:205511560-205511561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537847579	chr2:205511568-205511569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376009246	chr2:205511632-205511633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10199785	chr2:205511635-205511636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568204747	chr2:205511652-205511653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191460739	chr2:205511653-205511654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115787540	chr2:205511663-205511664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555142148	chr2:205511691-205511692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573409761	chr2:205511722-205511723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540439108	chr2:205511729-205511730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370576714	chr2:205511756-205511757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558834431	chr2:205511759-205511760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577077014	chr2:205511762-205511763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556651294	chr2:205511802-205511803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10199977	chr2:205511853-205511854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562531991	chr2:205511960-205511961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536332730	chr2:205511965-205511966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573313401	chr2:205512027-205512028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530168766	chr2:205512046-205512047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542287836	chr2:205512051-205512052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540593529	chr2:205512064-205512065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575163244	chr2:205512127-205512128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115493459	chr2:205512187-205512188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542587254	chr2:205512212-205512213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184312602	chr2:205512221-205512222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189979613	chr2:205512262-205512263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35665634	chr2:205512298-205512299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530307571	chr2:205512324-205512325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561235403	chr2:205512393-205512394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205501200-205516600	Weak transcription	Aorta	Aorta
2	chr2:205502800-205515000	Weak transcription	Psoas Muscle	Psoas
3	chr2:205504200-205516000	Weak transcription	Fetal Stomach	stomach
4	chr2:205505400-205521600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:205506200-205511200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:205507200-205516800	Weak transcription	Ovary	ovary
7	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:205508400-205511400	Enhancers	Fetal Lung	lung
9	chr2:205510400-205519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:205510600-205519600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:205511200-205516200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:205511400-205512800	Weak transcription	Fetal Lung	lung
13	chr2:205512800-205513000	Enhancers	Fetal Lung	lung

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