Variant report

Variant	nsv558754
Chromosome Location	chr12:45898888-45909531
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	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
2	chr12:45891586..45893830-chr12:45896863..45899327,2	MCF-7	breast:

Extended variants
information (count: 203 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4408369	chr12:45898888-45898889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568912696	chr12:45898896-45898897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536028865	chr12:45898967-45898968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547916011	chr12:45899047-45899048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566208216	chr12:45899053-45899054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533563550	chr12:45899062-45899063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115111631	chr12:45899104-45899105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145906124	chr12:45899109-45899110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538914362	chr12:45899121-45899122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77159112	chr12:45899135-45899136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575953062	chr12:45899136-45899137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543230587	chr12:45899196-45899197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561397417	chr12:45899218-45899219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573347701	chr12:45899221-45899222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182619038	chr12:45899224-45899225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17096041	chr12:45899229-45899230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74585105	chr12:45899247-45899248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544219787	chr12:45899250-45899251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562785263	chr12:45899265-45899266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529865271	chr12:45899266-45899267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78722136	chr12:45899302-45899303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566243110	chr12:45899316-45899317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561617483	chr12:45899321-45899322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527343348	chr12:45899340-45899341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112235891	chr12:45899354-45899355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146705496	chr12:45899387-45899388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10880801	chr12:45899396-45899397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570397051	chr12:45899410-45899411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537842179	chr12:45899412-45899413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557406810	chr12:45899418-45899419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75470192	chr12:45899449-45899450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536862039	chr12:45899456-45899457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12316574	chr12:45899504-45899505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530372416	chr12:45899507-45899508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34275778	chr12:45899554-45899555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564881947	chr12:45899561-45899562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540321356	chr12:45899605-45899606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545510350	chr12:45899618-45899619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559007261	chr12:45899640-45899641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577202482	chr12:45899709-45899710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564024918	chr12:45899740-45899741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185067434	chr12:45899792-45899793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533983074	chr12:45899800-45899801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562462456	chr12:45899801-45899802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34265125	chr12:45899821-45899822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189848980	chr12:45899830-45899831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559866044	chr12:45899913-45899914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35296382	chr12:45899923-45899924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551454114	chr12:45899933-45899934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561550648	chr12:45899957-45899958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45892200-45901600	Weak transcription	Pancreas	Pancrea
2	chr12:45896800-45901600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:45901600-45901800	ZNF genes & repeats	Pancreas	Pancrea
4	chr12:45901600-45902000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:45902000-45903000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:45902800-45903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:45902800-45903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:45902800-45903400	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:45902800-45903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:45902800-45903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:45902800-45903600	Enhancers	Fetal Thymus	thymus
12	chr12:45902800-45903600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:45903000-45903400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:45903000-45903600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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