Variant report

Variant	nsv1037041
Chromosome Location	chr12:11477123-11504091
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	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
2	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:

Extended variants
information (count: 1285 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4763681	chr12:11477123-11477124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202072322	chr12:11477137-11477138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113378839	chr12:11477141-11477142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555190149	chr12:11477148-11477149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186285254	chr12:11477149-11477150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543964789	chr12:11477153-11477154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79224910	chr12:11477159-11477160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564031837	chr12:11477186-11477187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12099553	chr12:11477187-11477188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571970656	chr12:11477279-11477280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117871579	chr12:11477307-11477308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189635951	chr12:11477342-11477343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117273764	chr12:11477360-11477361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528838808	chr12:11477401-11477402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540677193	chr12:11477409-11477410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568729980	chr12:11477442-11477443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560188974	chr12:11477457-11477458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531131602	chr12:11477495-11477496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183415157	chr12:11477500-11477501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6488392	chr12:11477514-11477515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6488393	chr12:11477535-11477536	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs553121790	chr12:11477541-11477542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144613677	chr12:11477555-11477556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535401180	chr12:11477565-11477566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555253759	chr12:11477579-11477580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76060689	chr12:11477597-11477598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186341357	chr12:11477606-11477607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147879699	chr12:11477612-11477613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548877453	chr12:11477616-11477617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190783775	chr12:11477650-11477651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540318122	chr12:11477657-11477658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559929974	chr12:11477689-11477690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371760893	chr12:11477696-11477697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573686723	chr12:11477712-11477713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542598046	chr12:11477731-11477732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562389666	chr12:11477763-11477764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531195261	chr12:11477791-11477792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554025664	chr12:11477792-11477793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550926641	chr12:11477819-11477820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141615183	chr12:11477830-11477831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568619051	chr12:11477870-11477871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533312150	chr12:11477879-11477880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59523126	chr12:11477887-11477888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566587772	chr12:11477911-11477912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553923639	chr12:11477971-11477972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535461599	chr12:11478009-11478010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150435860	chr12:11478018-11478019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372257069	chr12:11478030-11478031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367717691	chr12:11478031-11478032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568829488	chr12:11478059-11478060	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11475400-11478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:11478200-11479200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:11478800-11479400	Enhancers	HMEC	breast
4	chr12:11479000-11479200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:11479200-11480200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:11479200-11493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:11486800-11487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:11493000-11493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:11493000-11493400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:11493000-11494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:11494200-11496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:11496600-11496800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:11496800-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:11497200-11497800	Enhancers	HepG2	liver
15	chr12:11497800-11498600	Enhancers	Fetal Intestine Small	intestine
16	chr12:11498200-11498600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:11504000-11505000	Enhancers	HUVEC	blood vessel

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