Variant report

Variant	nsv584046
Chromosome Location	chr2:188967163-189006890
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:72573103..72574031-chr2:188995710..188996539,2	MCF-7	breast:
2	chr2:188710121..188711814-chr2:188979120..188982025,2	MCF-7	breast:
3	chr11:9480847..9482961-chr2:188994843..188997685,2	MCF-7	breast:
4	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:
5	chr2:188964742..188967456-chr2:188978062..188980156,2	K562	blood:
6	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:
7	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
8	chr2:188994299..188994907-chr2:189145390..189145988,2	MCF-7	breast:
9	chr2:188964742..188967456-chr2:188978062..188980156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 1304 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529940921	chr2:188967196-188967197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140630246	chr2:188967289-188967290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560912476	chr2:188967329-188967330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191126585	chr2:188967344-188967345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181936141	chr2:188967404-188967405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145679948	chr2:188967408-188967409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115452914	chr2:188967409-188967410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59158272	chr2:188967414-188967415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565889736	chr2:188967421-188967422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536511960	chr2:188967434-188967435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554590051	chr2:188967459-188967460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567628592	chr2:188967469-188967470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186306442	chr2:188967503-188967504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146553577	chr2:188967523-188967524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114704646	chr2:188967532-188967533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114034273	chr2:188967561-188967562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545109491	chr2:188967564-188967565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113257578	chr2:188967585-188967586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572575112	chr2:188967588-188967589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543287349	chr2:188967649-188967650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12618234	chr2:188967728-188967729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs567894661	chr2:188967729-188967730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531323692	chr2:188967755-188967756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12990029	chr2:188967815-188967816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79019006	chr2:188967860-188967861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564875204	chr2:188967894-188967895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140917105	chr2:188967896-188967897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547530207	chr2:188967901-188967902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190472621	chr2:188967911-188967912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527658031	chr2:188967915-188967916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372050448	chr2:188967923-188967924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529876177	chr2:188967924-188967925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6742545	chr2:188967926-188967927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369987167	chr2:188967985-188967986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569898962	chr2:188967991-188967992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150273506	chr2:188967993-188967994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556099341	chr2:188968003-188968004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138918685	chr2:188968013-188968014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182974788	chr2:188968112-188968113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12621773	chr2:188968157-188968158	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572587657	chr2:188968169-188968170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186942945	chr2:188968221-188968222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555238258	chr2:188968227-188968228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576609465	chr2:188968263-188968264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149429837	chr2:188968290-188968291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564833393	chr2:188968317-188968318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147098208	chr2:188968333-188968334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541104742	chr2:188968349-188968350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559216057	chr2:188968391-188968392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189960445	chr2:188968404-188968405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:188960200-188968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:188968000-188968600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:188968000-188969600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:188968600-188969000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:188969800-188970400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:188970400-188971200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:188970600-188970800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:188970600-188971400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:188970600-188971600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:188971400-188971600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:188978400-188979000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:188978400-188979000	Enhancers	NH-A	brain
14	chr2:188978400-188979200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:188978600-188979000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:188978600-188979000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:188978600-188979000	Enhancers	Fetal Lung	lung
18	chr2:188978600-188979200	Enhancers	HUVEC	blood vessel
19	chr2:188979000-188982400	Weak transcription	Fetal Lung	lung
20	chr2:188979000-189001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:188979400-189013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:188981800-188982600	Weak transcription	Aorta	Aorta
23	chr2:188982400-188983000	Enhancers	Fetal Lung	lung
24	chr2:188982600-188982800	Enhancers	Aorta	Aorta
25	chr2:188982800-188984200	Weak transcription	Aorta	Aorta
26	chr2:188983000-188983600	Weak transcription	Fetal Lung	lung
27	chr2:188983400-188984800	Enhancers	Fetal Heart	heart
28	chr2:188983600-188983800	Enhancers	Fetal Lung	lung
29	chr2:188984200-188984800	Enhancers	Aorta	Aorta
30	chr2:188984800-188987400	Weak transcription	Fetal Heart	heart
31	chr2:188987400-188988400	Enhancers	Fetal Heart	heart
32	chr2:188987600-188987800	Enhancers	HMEC	breast
33	chr2:188987600-188988000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:188987800-188988000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:188987800-188988200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:188987800-188988200	Flanking Active TSS	HMEC	breast
37	chr2:188987800-188988400	Active TSS	K562	blood
38	chr2:188988000-188988200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:188988000-188988400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:188988000-188988400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:188988000-188988800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr2:188988000-188988800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr2:188988200-188988400	Active TSS	HMEC	breast
44	chr2:188988200-188988600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:188988200-188988800	Active TSS	H1 Cell Line	embryonic stem cell
46	chr2:188988200-188988800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr2:188988200-188988800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:188988600-188994400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:188994400-188996400	Enhancers	Fetal Heart	heart
50	chr2:188994400-189003000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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