Variant report

Variant	nsv945323
Chromosome Location	chr1:190130129-190134812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552738089	chr1:190130177-190130178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76998823	chr1:190131605-190131606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376108275	chr1:190131606-190131607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546538165	chr1:190131621-190131622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556771167	chr1:190131623-190131624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373263429	chr1:190131652-190131653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541958688	chr1:190131670-190131671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191956724	chr1:190131728-190131729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10920654	chr1:190131750-190131751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541382640	chr1:190131756-190131757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564163642	chr1:190131792-190131793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141750713	chr1:190131793-190131794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552087950	chr1:190131825-190131826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183795465	chr1:190131874-190131875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75878323	chr1:190132037-190132038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548084440	chr1:190132048-190132049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76801323	chr1:190132055-190132056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552149781	chr1:190132063-190132064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542269756	chr1:190132078-190132079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150562276	chr1:190132113-190132114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187628721	chr1:190132121-190132122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553772768	chr1:190132134-190132135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139660664	chr1:190132148-190132149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144529408	chr1:190132184-190132185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556946816	chr1:190132209-190132210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377006698	chr1:190132274-190132275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527423599	chr1:190132285-190132286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372730443	chr1:190132341-190132342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576669675	chr1:190132354-190132355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190751765	chr1:190132370-190132371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555700636	chr1:190132440-190132441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35370490	chr1:190132470-190132471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186807455	chr1:190132494-190132495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560502961	chr1:190132508-190132509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564124975	chr1:190132589-190132590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577655360	chr1:190132618-190132619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2247204	chr1:190132619-190132620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562394836	chr1:190132632-190132633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199978297	chr1:190132634-190132635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112139716	chr1:190132716-190132717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11281945	chr1:190132727-190132728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201503820	chr1:190132733-190132734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548329058	chr1:190132736-190132737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561754309	chr1:190132745-190132746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182730734	chr1:190132778-190132779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571933522	chr1:190132810-190132811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547547108	chr1:190132936-190132937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72729136	chr1:190132937-190132938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548005282	chr1:190132992-190132993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539395334	chr1:190132994-190132995	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190124600-190130200	Weak transcription	Fetal Intestine Large	intestine
2	chr1:190131600-190132400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:190132400-190136800	Weak transcription	Muscle Satellite Cultured Cells	--

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