Variant report

Variant	nsv1050201
Chromosome Location	chr12:60269149-60297702
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	chr12:60264304..60266697-chr12:60268943..60270988,2	MCF-7	breast:
2	chr10:134074099..134074709-chr12:60273368..60273868,2	MCF-7	breast:

Extended variants
information (count: 1003 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555452187	chr12:60269216-60269217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536736793	chr12:60269281-60269282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556742680	chr12:60269282-60269283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576688631	chr12:60269321-60269322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545618080	chr12:60269338-60269339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73117584	chr12:60269357-60269358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74502710	chr12:60269434-60269435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79193741	chr12:60269435-60269436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572674464	chr12:60269457-60269458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10161437	chr12:60269471-60269472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560055910	chr12:60269553-60269554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192714942	chr12:60269582-60269583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182747933	chr12:60269719-60269720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34062063	chr12:60269737-60269738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187821375	chr12:60269797-60269798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542724586	chr12:60269821-60269822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192769892	chr12:60269884-60269885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571373712	chr12:60269890-60269891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141451674	chr12:60269965-60269966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563013503	chr12:60270006-60270007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547382306	chr12:60270076-60270077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567662386	chr12:60270109-60270110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183896892	chr12:60270114-60270115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4334056	chr12:60270118-60270119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150833806	chr12:60270171-60270172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542645954	chr12:60270183-60270184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551778545	chr12:60270191-60270192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189019972	chr12:60270197-60270198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572564482	chr12:60270216-60270217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541702597	chr12:60270245-60270246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554888987	chr12:60270306-60270307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373366815	chr12:60270332-60270333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572096804	chr12:60270368-60270369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12320040	chr12:60270407-60270408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs373357290	chr12:60270412-60270413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117901326	chr12:60270444-60270445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528034748	chr12:60270493-60270494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7960213	chr12:60270532-60270533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs531407282	chr12:60270535-60270536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191941963	chr12:60270540-60270541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565888987	chr12:60270585-60270586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116674699	chr12:60270675-60270676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs118159982	chr12:60270676-60270677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367564906	chr12:60270721-60270722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567601687	chr12:60270817-60270818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530032949	chr12:60270851-60270852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373490816	chr12:60270869-60270870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570071921	chr12:60270872-60270873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184739931	chr12:60270900-60270901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539085334	chr12:60270928-60270929	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60242200-60295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60266800-60270000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:60267800-60269800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:60268000-60269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:60268400-60269400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:60268600-60269200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:60268800-60269200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:60268800-60269800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:60269000-60269600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:60269200-60269600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:60269200-60269600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:60284800-60285200	Enhancers	HUVEC	blood vessel
13	chr12:60286400-60286800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:60288600-60289400	Enhancers	Fetal Brain Female	brain
15	chr12:60288800-60289400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:60289000-60289800	Enhancers	Fetal Brain Male	brain
17	chr12:60291800-60292200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:60295600-60296800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:60296800-60320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:60297600-60298400	Enhancers	NHDF-Ad	bronchial

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