Variant report

Variant	nsv548544
Chromosome Location	chr1:189865412-189924123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
2	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
3	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
4	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
5	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:
6	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
7	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:

Extended variants
information (count: 781 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9782874	chr1:189868009-189868010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72042033	chr1:189868031-189868032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113712986	chr1:189868035-189868036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79941901	chr1:189868068-189868069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115127139	chr1:189868109-189868110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560907760	chr1:189868149-189868150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533948892	chr1:189868290-189868291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113103701	chr1:189868295-189868296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529709254	chr1:189868325-189868326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10920064	chr1:189868327-189868328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576825217	chr1:189868365-189868366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111584380	chr1:189868404-189868405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576115833	chr1:189868405-189868406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575975352	chr1:189868452-189868453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150112737	chr1:189868463-189868464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562014761	chr1:189868524-189868525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373826272	chr1:189868530-189868531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527980547	chr1:189868540-189868541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547541803	chr1:189868576-189868577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73061549	chr1:189868577-189868578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533404220	chr1:189868587-189868588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192502214	chr1:189868610-189868611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550223909	chr1:189868613-189868614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12139892	chr1:189868624-189868625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138905283	chr1:189868626-189868627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112682324	chr1:189868647-189868648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552368750	chr1:189868648-189868649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56895468	chr1:189868663-189868664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397754511	chr1:189868667-189868668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112606572	chr1:189868676-189868677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534090244	chr1:189868690-189868691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10920065	chr1:189868708-189868709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576965023	chr1:189868764-189868765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567356965	chr1:189868792-189868793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539289335	chr1:189868797-189868798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541643937	chr1:189868811-189868812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149399499	chr1:189868858-189868859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115648121	chr1:189868901-189868902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77463162	chr1:189868921-189868922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371812759	chr1:189868957-189868958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561353529	chr1:189868971-189868972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16831725	chr1:189868978-189868979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185083527	chr1:189869000-189869001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187937932	chr1:189869083-189869084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564650518	chr1:189869090-189869091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533557633	chr1:189869168-189869169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543673664	chr1:189869186-189869187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563775779	chr1:189869196-189869197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115180403	chr1:189869235-189869236	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549358610	chr1:189869242-189869243	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189868000-189870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:189868200-189868400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:189868200-189869600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:189868200-189870000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:189868400-189870000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:189868600-189869200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:189868600-189870000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:189868800-189869600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:189868800-189869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:189868800-189870000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:189869000-189869600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:189869200-189869600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:189869200-189869600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:189869400-189869800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:189869600-189870200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:189869800-189884200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:189870200-189870600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:189870600-189871000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:189870800-189871000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:189876800-189877000	Enhancers	Spleen	Spleen
21	chr1:189890400-189890800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:189890400-189890800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:189890400-189891000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:189890400-189891200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:189890600-189891000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:189890600-189891000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:189890800-189891400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:189898600-189899000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:189898600-189899200	Enhancers	Pancreas	Pancrea
30	chr1:189898800-189899000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:189898800-189899200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:189910800-189911400	Enhancers	A549	lung
33	chr1:189918800-189919200	Enhancers	A549	lung

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