Variant report

Variant	esv3387498
Chromosome Location	chr12:33889734-33907413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33901002..33902516-chr12:33905016..33907291,2	MCF-7	breast:
2	chr12:33903835..33905859-chr12:33907919..33910698,2	MCF-7	breast:
3	chr12:33901002..33902516-chr12:33905016..33907291,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558821995	chr12:33905460-33905461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370184662	chr12:33905461-33905462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542343911	chr12:33905474-33905475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528371863	chr12:33905482-33905483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548107701	chr12:33905483-33905484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568035235	chr12:33905509-33905510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530584534	chr12:33905519-33905520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550368667	chr12:33905524-33905525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570479063	chr12:33905536-33905537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539203456	chr12:33905610-33905611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552922376	chr12:33905657-33905658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566376468	chr12:33905699-33905700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141336274	chr12:33905715-33905716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187153712	chr12:33905829-33905830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576019700	chr12:33905930-33905931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544772352	chr12:33905931-33905932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74925431	chr12:33905932-33905933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571468143	chr12:33905943-33905944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578043084	chr12:33905953-33905954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73097565	chr12:33905970-33905971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190987409	chr12:33905972-33905973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529242792	chr12:33906057-33906058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570758156	chr12:33906061-33906062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542627337	chr12:33906090-33906091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557078572	chr12:33906104-33906105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561607263	chr12:33906177-33906178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370669293	chr12:33906185-33906186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576535184	chr12:33906186-33906187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550356112	chr12:33906194-33906195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564165288	chr12:33906197-33906198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544007489	chr12:33906202-33906203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533027310	chr12:33906215-33906216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546403558	chr12:33906217-33906218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146982859	chr12:33906233-33906234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183392544	chr12:33906243-33906244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549004859	chr12:33906244-33906245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569571106	chr12:33906259-33906260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78115672	chr12:33906260-33906261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558316926	chr12:33906304-33906305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578131184	chr12:33906305-33906306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534427629	chr12:33906342-33906343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529741951	chr12:33906347-33906348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553940032	chr12:33906354-33906355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573805885	chr12:33906451-33906452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186612718	chr12:33906490-33906491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542565365	chr12:33906497-33906498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73097566	chr12:33906529-33906530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575178010	chr12:33906574-33906575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11052887	chr12:33906584-33906585	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33905400-33906600	Enhancers	K562	blood
2	chr12:33905600-33906000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:33905600-33906000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:33905600-33906000	Enhancers	HMEC	breast
5	chr12:33905800-33906200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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