Variant report

Variant	nsv548564
Chromosome Location	chr1:190658429-190713300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190712755..190714795-chr1:190716626..190718299,3	K562	blood:
2	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
3	chr1:190713136..190715687-chr1:190730487..190732359,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-4	chr1:190707568-190707640	ENSG00000231175.1

Extended variants
information (count: 51 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547789314	chr1:190673275-190673276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544649914	chr1:190673287-190673288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139885412	chr1:190673321-190673322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543437343	chr1:190673330-190673331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565700842	chr1:190673332-190673333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563008962	chr1:190673387-190673388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528978610	chr1:190673396-190673397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1325226	chr1:190673443-190673444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559134232	chr1:190673470-190673471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528332865	chr1:190673492-190673493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74921421	chr1:190673568-190673569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149974920	chr1:190673587-190673588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145662365	chr1:190707578-190707579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs574950523	chr1:190707579-190707580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs79312575	chr1:190707580-190707581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs560845247	chr1:190707587-190707588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs148901014	chr1:190707588-190707589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs539267494	chr1:190707601-190707602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs572028961	chr1:190707610-190707611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs79706560	chr1:190709007-190709008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183049498	chr1:190709014-190709015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188430745	chr1:190709055-190709056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59739924	chr1:190709086-190709087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534964640	chr1:190709099-190709100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144690636	chr1:190709104-190709105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12135407	chr1:190709144-190709145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191170533	chr1:190709152-190709153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148213222	chr1:190709153-190709154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576529462	chr1:190709167-190709168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542396366	chr1:190709332-190709333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35013866	chr1:190709333-190709334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201359497	chr1:190709335-190709336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183779415	chr1:190709351-190709352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117040327	chr1:190709370-190709371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199720475	chr1:190709379-190709380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566899624	chr1:190709389-190709390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141537897	chr1:190709393-190709394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150875236	chr1:190709400-190709401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536488986	chr1:190709413-190709414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549584048	chr1:190709433-190709434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74129784	chr1:190709476-190709477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138352278	chr1:190709501-190709502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10429896	chr1:190709600-190709601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549157800	chr1:190709634-190709635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35864653	chr1:190709647-190709648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397783698	chr1:190709652-190709653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565922644	chr1:190709653-190709654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144098623	chr1:190709703-190709704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187401572	chr1:190709710-190709711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569438435	chr1:190709719-190709720	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190673200-190673600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:190709000-190709800	Enhancers	Fetal Heart	heart

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