Variant report

Variant	nsv508682
Chromosome Location	chr1:190875427-190916044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190889013..190890903-chr1:190897780..190899545,2	MCF-7	breast:
2	chr1:190907314..190910311-chr1:190988688..190990783,2	K562	blood:
3	chr1:190889013..190890903-chr1:190897780..190899545,2	MCF-7	breast:

Extended variants
information (count: 837 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572535441	chr1:190875474-190875475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367598565	chr1:190875495-190875496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116317169	chr1:190875511-190875512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564960832	chr1:190875568-190875569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78437567	chr1:190875574-190875575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575268042	chr1:190875583-190875584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544349403	chr1:190875638-190875639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74530228	chr1:190875642-190875643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12411096	chr1:190875644-190875645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs541567439	chr1:190875690-190875691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546942077	chr1:190875706-190875707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535875505	chr1:190875718-190875719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182270852	chr1:190875771-190875772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528458796	chr1:190875778-190875779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34451100	chr1:190875784-190875785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6669443	chr1:190875884-190875885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571666962	chr1:190875906-190875907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187290240	chr1:190875910-190875911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190975560	chr1:190875939-190875940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140969271	chr1:190875970-190875971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180864720	chr1:190876004-190876005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12411137	chr1:190876009-190876010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs185513687	chr1:190876015-190876016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79133018	chr1:190876025-190876026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189928312	chr1:190876030-190876031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558273518	chr1:190876050-190876051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575260547	chr1:190876055-190876056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6669436	chr1:190876071-190876072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182959317	chr1:190876093-190876094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554748740	chr1:190876095-190876096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540792876	chr1:190876120-190876121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1936980	chr1:190876141-190876142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560458199	chr1:190876155-190876156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532448741	chr1:190876201-190876202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143699290	chr1:190876277-190876278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187255465	chr1:190876297-190876298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146831204	chr1:190876367-190876368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550824023	chr1:190876368-190876369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139072550	chr1:190876381-190876382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373751741	chr1:190876384-190876385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567507149	chr1:190876435-190876436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140500565	chr1:190876447-190876448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370218660	chr1:190876532-190876533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574435443	chr1:190876567-190876568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546813070	chr1:190876601-190876602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1936981	chr1:190876633-190876634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538975468	chr1:190876647-190876648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558518742	chr1:190876650-190876651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530565889	chr1:190876666-190876667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568808576	chr1:190876673-190876674	Weak transcription	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
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
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
Lung cancer	17086460	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190874000-190877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:190875600-190875800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:190876000-190878400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:190876400-190876600	Enhancers	Colon Smooth Muscle	Colon
5	chr1:190877600-190878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:190881000-190881400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:190881200-190881400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:190884800-190885400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:190885000-190886000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:190885400-190898800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:190898800-190899000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:190898800-190899200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:190899000-190899200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:190903000-190903200	Enhancers	Fetal Brain Male	brain
15	chr1:190903400-190904400	Weak transcription	Fetal Brain Male	brain
16	chr1:190904400-190905200	Enhancers	Fetal Brain Male	brain
17	chr1:190904400-190905800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:190904400-190906000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:190904400-190906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:190904400-190906200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:190904600-190904800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:190904800-190905400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:190904800-190905600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:190904800-190905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:190904800-190905800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:190904800-190906600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:190905000-190905600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:190905000-190906000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:190905600-190906400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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