Variant report

Variant	esv3497052
Chromosome Location	chr12:62200665-62211108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62198235..62200849-chr19:59029666..59031428,2	MCF-7	breast:
2	chr12:62202859..62205384-chr12:62210206..62212570,2	MCF-7	breast:
3	chr12:62202859..62205384-chr12:62210206..62212570,2	MCF-7	breast:
4	chr12:62199096..62201895-chr12:62204171..62205825,2	K562	blood:
5	chr12:62199096..62201895-chr12:62204171..62205825,2	K562	blood:

Variant related genes	Relation type
ENSG00000119574	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534415318	chr12:62200678-62200679	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565115514	chr12:62200688-62200689	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527466981	chr12:62200691-62200692	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190952311	chr12:62200729-62200730	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561255790	chr12:62200731-62200732	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147567466	chr12:62200781-62200782	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371132402	chr12:62200784-62200785	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374273771	chr12:62200788-62200789	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549758611	chr12:62200789-62200790	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181418878	chr12:62200796-62200797	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574774691	chr12:62200801-62200802	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554111979	chr12:62200862-62200863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551843508	chr12:62200877-62200878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565963320	chr12:62200881-62200882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7299986	chr12:62200887-62200888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534910086	chr12:62200893-62200894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554709292	chr12:62200895-62200896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568746469	chr12:62200900-62200901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185436912	chr12:62200911-62200912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190686258	chr12:62200924-62200925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545959075	chr12:62200960-62200961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142025786	chr12:62200966-62200967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546353831	chr12:62200983-62200984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553481596	chr12:62201011-62201012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145879208	chr12:62201021-62201022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113711606	chr12:62201031-62201032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs35150293	chr12:62201033-62201034	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530003057	chr12:62201037-62201038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182906828	chr12:62201051-62201052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576096124	chr12:62201117-62201118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10784263	chr12:62201124-62201125	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563332867	chr12:62201143-62201144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531961407	chr12:62201153-62201154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551727341	chr12:62201217-62201218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559038131	chr12:62201250-62201251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528134989	chr12:62201288-62201289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548768874	chr12:62201324-62201325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs568556854	chr12:62201357-62201358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187244924	chr12:62201381-62201382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs192021803	chr12:62201390-62201391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148889681	chr12:62201407-62201408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534731252	chr12:62201427-62201428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576520122	chr12:62201432-62201433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183945427	chr12:62201438-62201439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2198779	chr12:62201467-62201468	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527680117	chr12:62201486-62201487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573382660	chr12:62201498-62201499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148070212	chr12:62201501-62201502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187683420	chr12:62201502-62201503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141933882	chr12:62201564-62201565	ZNF genes & repeats	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
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
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62199800-62203000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62200600-62201800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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