Variant report

Variant	nsv1037130
Chromosome Location	chr12:73424263-73444590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532004920	chr12:73424280-73424281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147968411	chr12:73424291-73424292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553579589	chr12:73424305-73424306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537790848	chr12:73424320-73424321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555782716	chr12:73424372-73424373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182230526	chr12:73424373-73424374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187539939	chr12:73424383-73424384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534865411	chr12:73424386-73424387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192470813	chr12:73424434-73424435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141869757	chr12:73424447-73424448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545501314	chr12:73424455-73424456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185710211	chr12:73424469-73424470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575545134	chr12:73424495-73424496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75658327	chr12:73425229-73425230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557442627	chr12:73425270-73425271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149583919	chr12:73425375-73425376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536215306	chr12:73425411-73425412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563352829	chr12:73425447-73425448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554867461	chr12:73425485-73425486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111264677	chr12:73425489-73425490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61933273	chr12:73425542-73425543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540123411	chr12:73425561-73425562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372924437	chr12:73425571-73425572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564780262	chr12:73425580-73425581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377261318	chr12:73425612-73425613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192951194	chr12:73425626-73425627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370091666	chr12:73425628-73425629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566144073	chr12:73425629-73425630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534830454	chr12:73425654-73425655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116237178	chr12:73425729-73425730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529708747	chr12:73425736-73425737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547904426	chr12:73425755-73425756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560077988	chr12:73425756-73425757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571758520	chr12:73425758-73425759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528833017	chr12:73425761-73425762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547309064	chr12:73425778-73425779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187228027	chr12:73435040-73435041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11179520	chr12:73435084-73435085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531676927	chr12:73435155-73435156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528820440	chr12:73435185-73435186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549760254	chr12:73435222-73435223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548868734	chr12:73435269-73435270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192552724	chr12:73435288-73435289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184359751	chr12:73435292-73435293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547536714	chr12:73435403-73435404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553777071	chr12:73435458-73435459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565809844	chr12:73435478-73435479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539144960	chr12:73435528-73435529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557776139	chr12:73435565-73435566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569548085	chr12:73435591-73435592	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
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Osteosarcoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73424200-73424600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:73425200-73425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:73435000-73435800	Enhancers	HUES48 Cell Line	embryonic stem cell

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