Variant report

Variant	esv3509138
Chromosome Location	chr2:187673957-187677555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572403896	chr2:187674218-187674219	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71852548	chr2:187674222-187674223	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542611695	chr2:187674247-187674248	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546897977	chr2:187674266-187674267	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562726913	chr2:187674307-187674308	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561444990	chr2:187674313-187674314	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529878269	chr2:187674316-187674317	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576423194	chr2:187674351-187674352	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544440059	chr2:187674397-187674398	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117437810	chr2:187674405-187674406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533297451	chr2:187674463-187674464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192190596	chr2:187674472-187674473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542032125	chr2:187674481-187674482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139259604	chr2:187674491-187674492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139532780	chr2:187674515-187674516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568125307	chr2:187674535-187674536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527532961	chr2:187674577-187674578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183597734	chr2:187674618-187674619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527281649	chr2:187674639-187674640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144458885	chr2:187674649-187674650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567377158	chr2:187674692-187674693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200326696	chr2:187674696-187674697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531285308	chr2:187674735-187674736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74395505	chr2:187674756-187674757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146647018	chr2:187674763-187674764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538996925	chr2:187674787-187674788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570720823	chr2:187674847-187674848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554049342	chr2:187674854-187674855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566203028	chr2:187674985-187674986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536667502	chr2:187675061-187675062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554636681	chr2:187675063-187675064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576507560	chr2:187675068-187675069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141340554	chr2:187675073-187675074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116281734	chr2:187675079-187675080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577908816	chr2:187675206-187675207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3107392	chr2:187675234-187675235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560404181	chr2:187675235-187675236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188245529	chr2:187675458-187675459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192763846	chr2:187675494-187675495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560705687	chr2:187675516-187675517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531475725	chr2:187675618-187675619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549464946	chr2:187675651-187675652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570965874	chr2:187675685-187675686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556985410	chr2:187675701-187675702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184414046	chr2:187675723-187675724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144037858	chr2:187675741-187675742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72265045	chr2:187675742-187675743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60228728	chr2:187675773-187675774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs68181318	chr2:187675781-187675782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71924234	chr2:187675783-187675784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187674200-187674400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187674200-187674800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr2:187674400-187674800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:187674400-187675000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:187674400-187675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:187674400-187675200	Enhancers	HUVEC	blood vessel
7	chr2:187674400-187685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:187674600-187675200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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