Variant report

Variant	nsv983438
Chromosome Location	chr12:59582134-59592755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:
2	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:
3	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564121477	chr12:59585216-59585217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115241324	chr12:59585219-59585220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562617668	chr12:59585236-59585237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10877236	chr12:59585251-59585252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551593439	chr12:59585257-59585258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565083838	chr12:59585372-59585373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148968645	chr12:59585390-59585391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530451830	chr12:59585423-59585424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548571274	chr12:59585461-59585462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143735235	chr12:59585558-59585559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10877237	chr12:59585562-59585563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552351547	chr12:59585592-59585593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370582101	chr12:59585626-59585627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570651774	chr12:59585640-59585641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151060524	chr12:59585745-59585746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75535161	chr12:59585769-59585770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76410524	chr12:59585776-59585777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75575775	chr12:59585794-59585795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556937458	chr12:59585884-59585885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148176281	chr12:59585913-59585914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575510339	chr12:59585916-59585917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578178489	chr12:59585936-59585937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546065031	chr12:59585954-59585955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557971711	chr12:59585970-59585971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114636654	chr12:59585980-59585981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539927721	chr12:59586044-59586045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77413316	chr12:59586054-59586055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536237778	chr12:59586135-59586136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140953836	chr12:59586172-59586173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528847619	chr12:59586173-59586174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542518728	chr12:59586200-59586201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570242530	chr12:59586212-59586213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2036303	chr12:59586218-59586219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531102491	chr12:59586246-59586247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144962176	chr12:59586247-59586248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78803376	chr12:59586289-59586290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528588421	chr12:59586295-59586296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138796926	chr12:59586314-59586315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568453530	chr12:59586379-59586380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535437155	chr12:59586385-59586386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531938277	chr12:59586399-59586400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557318989	chr12:59586435-59586436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558675931	chr12:59586455-59586456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572325455	chr12:59586467-59586468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142676501	chr12:59586485-59586486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60819410	chr12:59586486-59586487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558011136	chr12:59586494-59586495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533608490	chr12:59586550-59586551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185506780	chr12:59586584-59586585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61936470	chr12:59586590-59586591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59585200-59585400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59585200-59585400	Enhancers	HMEC	breast
3	chr12:59585400-59587200	Weak transcription	HMEC	breast
4	chr12:59585600-59587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:59586000-59586800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:59587200-59587800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:59587200-59587800	Enhancers	HMEC	breast

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