Variant report

Variant	nsv548539
Chromosome Location	chr1:189769181-189786558
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	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:
2	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-7	chr1:189783962-189784048	XLOC_000503

Variant related genes	Relation type
SOX2	miRNA target sites

Extended variants
information (count: 137 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190224341	chr1:189773465-189773466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149663060	chr1:189773466-189773467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114395305	chr1:189773471-189773472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532313265	chr1:189773523-189773524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552522725	chr1:189773538-189773539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145443461	chr1:189773600-189773601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369308484	chr1:189773641-189773642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531242752	chr1:189773655-189773656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548165403	chr1:189773656-189773657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73057658	chr1:189773693-189773694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533896692	chr1:189773811-189773812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181504630	chr1:189773812-189773813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570732209	chr1:189773824-189773825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539619766	chr1:189773849-189773850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556470907	chr1:189774009-189774010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576662371	chr1:189774015-189774016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372791038	chr1:189774018-189774019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73057660	chr1:189774046-189774047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113622157	chr1:189774126-189774127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541555265	chr1:189774146-189774147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369328543	chr1:189774149-189774150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372650331	chr1:189774153-189774154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540909642	chr1:189774175-189774176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577138328	chr1:189774184-189774185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532615716	chr1:189774199-189774200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555751795	chr1:189774605-189774606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566088693	chr1:189774617-189774618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117264196	chr1:189774618-189774619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558319378	chr1:189774624-189774625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554930900	chr1:189774641-189774642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11802601	chr1:189774645-189774646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12120641	chr1:189774673-189774674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556333077	chr1:189774677-189774678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377363296	chr1:189774685-189774686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369240703	chr1:189774722-189774723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147722030	chr1:189774794-189774795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568742030	chr1:189774819-189774820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185302073	chr1:189774829-189774830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142529115	chr1:189774850-189774851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540612088	chr1:189774858-189774859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563882817	chr1:189774957-189774958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200098113	chr1:189774969-189774970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386637867	chr1:189774970-189774971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372831918	chr1:189774971-189774972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570248526	chr1:189774995-189774996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6657179	chr1:189775142-189775143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2039773	chr1:189775183-189775184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535059939	chr1:189775207-189775208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545710725	chr1:189775208-189775209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558186552	chr1:189775234-189775235	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
Ewing''s sarcoma	17952124	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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189773400-189773800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:189773400-189773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:189773400-189773800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:189773400-189774000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:189773400-189774000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:189773400-189774000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:189773400-189774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:189773400-189774000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:189773400-189774200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:189773600-189774000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:189774600-189775800	Enhancers	HUVEC	blood vessel
12	chr1:189774800-189775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:189785400-189786000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:189785600-189786000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:189785600-189786200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:189785600-189786200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:189785600-189786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:189785800-189786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:189785800-189786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:189786200-189789400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:189786200-189789800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:189786200-189789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:189786200-189790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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