Variant report

Variant	nsv548546
Chromosome Location	chr1:190036693-190070919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
2	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:
3	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:
4	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:
5	chr1:190068465..190070219-chr1:190071974..190074845,2	MCF-7	breast:

Extended variants
information (count: 391 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7514281	chr1:190036693-190036694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569270817	chr1:190036744-190036745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12119901	chr1:190036796-190036797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150948990	chr1:190036849-190036850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556959866	chr1:190036866-190036867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559121766	chr1:190036882-190036883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543207296	chr1:190036897-190036898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573841819	chr1:190036941-190036942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552674590	chr1:190036953-190036954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574248756	chr1:190036965-190036966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552701920	chr1:190036966-190036967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112329575	chr1:190036986-190036987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374559795	chr1:190037020-190037021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564668461	chr1:190037138-190037139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113418743	chr1:190037154-190037155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530411131	chr1:190037158-190037159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189044676	chr1:190037173-190037174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192763163	chr1:190037183-190037184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184665419	chr1:190037186-190037187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547329332	chr1:190037227-190037228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544906236	chr1:190037228-190037229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560660200	chr1:190037269-190037270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74130834	chr1:190037273-190037274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75952163	chr1:190037298-190037299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7516991	chr1:190037310-190037311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563359643	chr1:190037423-190037424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188803900	chr1:190037430-190037431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141056717	chr1:190037519-190037520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568364495	chr1:190037538-190037539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76823034	chr1:190037540-190037541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181555425	chr1:190037578-190037579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71123067	chr1:190053602-190053603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373553801	chr1:190053603-190053604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200621830	chr1:190053604-190053605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573698405	chr1:190053622-190053623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542233161	chr1:190053662-190053663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552936911	chr1:190053689-190053690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188885515	chr1:190053743-190053744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545756695	chr1:190053753-190053754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376511903	chr1:190053769-190053770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74130858	chr1:190053790-190053791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544834461	chr1:190053841-190053842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552726093	chr1:190053869-190053870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571099913	chr1:190053877-190053878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386637907	chr1:190053878-190053879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs68149637	chr1:190053879-190053880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112188086	chr1:190053889-190053890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184507080	chr1:190053899-190053900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187140602	chr1:190053901-190053902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528368980	chr1:190053956-190053957	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190036200-190037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:190036200-190037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:190036600-190036800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:190037400-190037600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:190053600-190054200	Enhancers	Placenta	Placenta
6	chr1:190062600-190063000	Enhancers	Fetal Intestine Small	intestine
7	chr1:190062800-190063000	Enhancers	Fetal Intestine Large	intestine
8	chr1:190063000-190067200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:190063200-190065000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:190065000-190065200	Enhancers	Fetal Intestine Large	intestine
11	chr1:190065200-190067200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:190065400-190067000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:190066400-190068800	Weak transcription	Colonic Mucosa	Colon
14	chr1:190067000-190068000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:190067000-190068000	Enhancers	HepG2	liver
16	chr1:190067200-190068200	Strong transcription	Fetal Intestine Large	intestine
17	chr1:190067200-190068200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr1:190068000-190068200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:190068000-190071800	Weak transcription	HepG2	liver
20	chr1:190068000-190085600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:190068200-190069200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:190068200-190079400	Weak transcription	Fetal Intestine Large	intestine

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