Variant report

Variant	nsv946469
Chromosome Location	chr1:176312857-176324981
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	chr1:175811108..175813119-chr1:176318373..176320354,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145232068	chr1:176319038-176319039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555591585	chr1:176319053-176319054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575620727	chr1:176319054-176319055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544560693	chr1:176319092-176319093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540474779	chr1:176319093-176319094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137909754	chr1:176319165-176319166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540307932	chr1:176319199-176319200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114615560	chr1:176319205-176319206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193205523	chr1:176319240-176319241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548711718	chr1:176319305-176319306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149478995	chr1:176319325-176319326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185342479	chr1:176319336-176319337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560195321	chr1:176319361-176319362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538164477	chr1:176319391-176319392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190193762	chr1:176319397-176319398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370686294	chr1:176320207-176320208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534151372	chr1:176320226-176320227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375246055	chr1:176320235-176320236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191746136	chr1:176320251-176320252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571460472	chr1:176320294-176320295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531460623	chr1:176320381-176320382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534136382	chr1:176320405-176320406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553681228	chr1:176320411-176320412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573806905	chr1:176320421-176320422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548475281	chr1:176320424-176320425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542341424	chr1:176320486-176320487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568307794	chr1:176320560-176320561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183314965	chr1:176320561-176320562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575601287	chr1:176320657-176320658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2455762	chr1:176320671-176320672	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150771990	chr1:176320676-176320677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77729227	chr1:176320689-176320690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541759394	chr1:176320698-176320699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs114000367	chr1:176320749-176320750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530353546	chr1:176320830-176320831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570524457	chr1:176320836-176320837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139720021	chr1:176320875-176320876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570184721	chr1:176320886-176320887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145317110	chr1:176320898-176320899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371428330	chr1:176320910-176320911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11583765	chr1:176321022-176321023	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555839057	chr1:176321034-176321035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187070043	chr1:176321037-176321038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533822257	chr1:176321102-176321103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs10913160	chr1:176321147-176321148	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147666469	chr1:176321155-176321156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536061063	chr1:176321176-176321177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373314716	chr1:176321237-176321238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs140740492	chr1:176321265-176321266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191507331	chr1:176321313-176321314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
early-passage human iPS cells	21368824	CNVD
Mental retardation	17847001	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176319000-176319400	Enhancers	K562	blood
2	chr1:176320200-176322200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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