Variant report

Variant	nsv1052303
Chromosome Location	chr12:75155035-75168411
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	chr12:75160845..75163008-chr12:75163683..75165464,2	MCF-7	breast:
2	chr12:75160845..75163008-chr12:75163683..75165464,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187793303	chr12:75155204-75155205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576573455	chr12:75155214-75155215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1396229	chr12:75155227-75155228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192534838	chr12:75155242-75155243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565166948	chr12:75155282-75155283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112587355	chr12:75155283-75155284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552001473	chr12:75155320-75155321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571999891	chr12:75155323-75155324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182893048	chr12:75155385-75155386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537447016	chr12:75155529-75155530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145912077	chr12:75155572-75155573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574432998	chr12:75155585-75155586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12315606	chr12:75155586-75155587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553582882	chr12:75155615-75155616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35298278	chr12:75155626-75155627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576987979	chr12:75155647-75155648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138931124	chr12:75155679-75155680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562842937	chr12:75155689-75155690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576475067	chr12:75155706-75155707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542281025	chr12:75155726-75155727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562045447	chr12:75155733-75155734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76308545	chr12:75155766-75155767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188825507	chr12:75155779-75155780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192701869	chr12:75155824-75155825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564765559	chr12:75155890-75155891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11180204	chr12:75155891-75155892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561286355	chr12:75155912-75155913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550304376	chr12:75155963-75155964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568906453	chr12:75155991-75155992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11180205	chr12:75156002-75156003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537908726	chr12:75156017-75156018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112664961	chr12:75156023-75156024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577708008	chr12:75156024-75156025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11180206	chr12:75156062-75156063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567699091	chr12:75156102-75156103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533518709	chr12:75156127-75156128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75551313	chr12:75156160-75156161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113462661	chr12:75156206-75156207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143465633	chr12:75156258-75156259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539299769	chr12:75156315-75156316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147976364	chr12:75156386-75156387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576492668	chr12:75156387-75156388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542319817	chr12:75156420-75156421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562134278	chr12:75156439-75156440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572488164	chr12:75156461-75156462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184999172	chr12:75156556-75156557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11180207	chr12:75156566-75156567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11180208	chr12:75156591-75156592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578222179	chr12:75156621-75156622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187549298	chr12:75156684-75156685	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75155200-75155400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:75155400-75156400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:75156400-75156800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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