Variant report

Variant	nsv511165
Chromosome Location	chr2:189112811-189122229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
2	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
3	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:
4	chr2:189114368..189116842-chr2:189156394..189158749,2	K562	blood:
5	chr2:189111332..189114158-chr2:189116062..189118762,3	K562	blood:
6	chr2:189111332..189114158-chr2:189116062..189118762,3	K562	blood:
7	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10199261	chr2:189112811-189112812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555151096	chr2:189112841-189112842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62179645	chr2:189112844-189112845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6716922	chr2:189112847-189112848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72903524	chr2:189112875-189112876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139831045	chr2:189112898-189112899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76427030	chr2:189112992-189112993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145667464	chr2:189113031-189113032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529714240	chr2:189113036-189113037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533088583	chr2:189113041-189113042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375809465	chr2:189113165-189113166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186024493	chr2:189113183-189113184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550922665	chr2:189113198-189113199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563103688	chr2:189113214-189113215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147337581	chr2:189113253-189113254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35442646	chr2:189113258-189113259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6759539	chr2:189113267-189113268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532438875	chr2:189113315-189113316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6759766	chr2:189113345-189113346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs566179222	chr2:189113364-189113365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536712295	chr2:189113370-189113371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548687320	chr2:189113434-189113435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191980966	chr2:189113438-189113439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552221083	chr2:189113473-189113474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537649207	chr2:189113481-189113482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141009966	chr2:189113492-189113493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577425918	chr2:189113501-189113502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539289476	chr2:189113535-189113536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72903526	chr2:189113584-189113585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182971392	chr2:189113597-189113598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574208988	chr2:189113667-189113668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74726928	chr2:189113768-189113769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547774554	chr2:189113776-189113777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188426552	chr2:189113875-189113876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575393183	chr2:189113978-189113979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76671957	chr2:189114003-189114004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553169854	chr2:189114023-189114024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578002279	chr2:189114063-189114064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539137764	chr2:189114099-189114100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192728315	chr2:189114137-189114138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564228941	chr2:189114164-189114165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573418586	chr2:189114186-189114187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528361811	chr2:189114245-189114246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182050096	chr2:189114260-189114261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74568825	chr2:189114278-189114279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186726521	chr2:189114328-189114329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75994407	chr2:189114340-189114341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542504847	chr2:189114352-189114353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192437741	chr2:189114364-189114365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72903527	chr2:189114384-189114385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189100400-189121200	Weak transcription	K562	blood
2	chr2:189110200-189115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:189111000-189115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:189112400-189114000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:189112400-189114200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:189114200-189114800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:189114200-189116000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:189114400-189114600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:189114800-189115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:189115200-189115400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189115400-189116000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:189115400-189116000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:189115800-189116000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:189115800-189116200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:189115800-189116200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:189115800-189116200	Enhancers	Placenta	Placenta
17	chr2:189116000-189116200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:189116200-189118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart
20	chr2:189121200-189121800	Enhancers	K562	blood
21	chr2:189121400-189121600	Enhancers	Aorta	Aorta
22	chr2:189121600-189128600	Weak transcription	Aorta	Aorta
23	chr2:189121800-189147800	Weak transcription	K562	blood

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