Variant report

Variant	esv3382065
Chromosome Location	chr2:115889932-115891880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:115891632..115893895-chr2:116010152..116012412,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561459151	chr2:115889962-115889963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530350167	chr2:115890034-115890035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150652928	chr2:115890064-115890065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563798537	chr2:115890069-115890070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72837518	chr2:115890070-115890071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547604767	chr2:115890078-115890079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4491738	chr2:115890104-115890105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs4527212	chr2:115890214-115890215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528560967	chr2:115890298-115890299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549756925	chr2:115890301-115890302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371884806	chr2:115890335-115890336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188459211	chr2:115890355-115890356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192540079	chr2:115890388-115890389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140869665	chr2:115890476-115890477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185327852	chr2:115890508-115890509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144831773	chr2:115890523-115890524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188806548	chr2:115890581-115890582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9308708	chr2:115890669-115890670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs66854927	chr2:115890670-115890671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12475275	chr2:115890683-115890684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs70941031	chr2:115890718-115890719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202162964	chr2:115890719-115890720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201062063	chr2:115890720-115890721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1850263	chr2:115890722-115890723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9678907	chr2:115890724-115890725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547453162	chr2:115890755-115890756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575431243	chr2:115890786-115890787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534929822	chr2:115890824-115890825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563912679	chr2:115890829-115890830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1850262	chr2:115890860-115890861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192588000	chr2:115890869-115890870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72837521	chr2:115890870-115890871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368898327	chr2:115890893-115890894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184800681	chr2:115890917-115890918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548200712	chr2:115890938-115890939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561813234	chr2:115890946-115890947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530921328	chr2:115890976-115890977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189258117	chr2:115891041-115891042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570675494	chr2:115891059-115891060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181045992	chr2:115891072-115891073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10199796	chr2:115891114-115891115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150068865	chr2:115891139-115891140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115207718	chr2:115891224-115891225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555414744	chr2:115891234-115891235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575367511	chr2:115891271-115891272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537949841	chr2:115891282-115891283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144888565	chr2:115891339-115891340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538486352	chr2:115891345-115891346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546162835	chr2:115891361-115891362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559591870	chr2:115891390-115891391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115882200-115892400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:115887400-115892600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:115887600-115893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:115887600-115893400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:115887800-115891200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:115889200-115891600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:115889600-115890200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:115889600-115890400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:115889800-115890000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:115889800-115891400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:115889800-115891600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:115890000-115891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:115890200-115893400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:115890400-115893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:115891000-115891400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:115891200-115891600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:115891400-115893200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:115891400-115893200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:115891600-115893000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:115891600-115893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:115891600-115893200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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