Variant report

Variant	nsv528772
Chromosome Location	chr1:184288820-184290515
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	chr1:184288413..184290019-chr1:184291615..184293702,2	K562	blood:
2	chr1:184283540..184285306-chr1:184286972..184289603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207080	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12096575	chr1:184288820-184288821	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72735646	chr1:184288836-184288837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142635765	chr1:184288838-184288839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369445639	chr1:184288852-184288853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536473597	chr1:184288934-184288935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554549296	chr1:184288952-184288953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566738334	chr1:184288953-184288954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12563334	chr1:184288982-184288983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553354867	chr1:184289010-184289011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578075778	chr1:184289025-184289026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73059572	chr1:184289029-184289030	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557456754	chr1:184289050-184289051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200313085	chr1:184289080-184289081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575733560	chr1:184289165-184289166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150566844	chr1:184289214-184289215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561347783	chr1:184289216-184289217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190235757	chr1:184289277-184289278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180756429	chr1:184289282-184289283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372033625	chr1:184289290-184289291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540536276	chr1:184289294-184289295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368760352	chr1:184289301-184289302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138565783	chr1:184289310-184289311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555973331	chr1:184289327-184289328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550379810	chr1:184289377-184289378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115801610	chr1:184289392-184289393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529764884	chr1:184289415-184289416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73059573	chr1:184289429-184289430	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs151082380	chr1:184289468-184289469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184960587	chr1:184289591-184289592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs963234	chr1:184289592-184289593	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115042540	chr1:184289612-184289613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144731386	chr1:184289627-184289628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56089087	chr1:184289649-184289650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557094075	chr1:184289669-184289670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189763813	chr1:184289755-184289756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139917069	chr1:184289763-184289764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554705249	chr1:184289785-184289786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533268026	chr1:184289795-184289796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386637498	chr1:184289800-184289801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7516012	chr1:184289822-184289823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540523980	chr1:184289838-184289839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564859468	chr1:184289927-184289928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565262264	chr1:184289931-184289932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531963376	chr1:184289947-184289948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4622032	chr1:184289963-184289964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs562365352	chr1:184290006-184290007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116136866	chr1:184290012-184290013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559352787	chr1:184290048-184290049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7412181	chr1:184290080-184290081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547988290	chr1:184290124-184290125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184289600-184291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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