Variant report

Variant	esv2761756
Chromosome Location	chr12:84417698-84428609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189678349	chr12:84426417-84426418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375519003	chr12:84426424-84426425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539146612	chr12:84426445-84426446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549897027	chr12:84426465-84426466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551594297	chr12:84426482-84426483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs562072121	chr12:84426489-84426490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73353768	chr12:84426490-84426491	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534088072	chr12:84426506-84426507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182947991	chr12:84426523-84426524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574908083	chr12:84426524-84426525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544308484	chr12:84426528-84426529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535876554	chr12:84426529-84426530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560934526	chr12:84426567-84426568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574286649	chr12:84426577-84426578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557059523	chr12:84426589-84426590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369836348	chr12:84426591-84426592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575731986	chr12:84426614-84426615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545976369	chr12:84426625-84426626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144499995	chr12:84426626-84426627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573062491	chr12:84426646-84426647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529373601	chr12:84426696-84426697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540544228	chr12:84426748-84426749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs36017919	chr12:84426758-84426759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562018855	chr12:84426793-84426794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs72547751	chr12:84426813-84426814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs10779069	chr12:84426814-84426815	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188651683	chr12:84426815-84426816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562336618	chr12:84426843-84426844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs533096537	chr12:84426866-84426867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551149002	chr12:84426884-84426885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201114426	chr12:84426892-84426893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375522718	chr12:84426910-84426911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533946839	chr12:84426949-84426950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539633156	chr12:84426952-84426953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76305200	chr12:84426974-84426975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185673487	chr12:84427011-84427012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115511983	chr12:84427029-84427030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187359019	chr12:84427097-84427098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147460986	chr12:84427131-84427132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539933643	chr12:84427156-84427157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557939499	chr12:84427199-84427200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139839344	chr12:84427209-84427210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540454440	chr12:84427248-84427249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555525080	chr12:84427312-84427313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574036893	chr12:84427328-84427329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78328265	chr12:84427329-84427330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs145450076	chr12:84427383-84427384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192265639	chr12:84427422-84427423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369480383	chr12:84427423-84427424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73353771	chr12:84427456-84427457	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84426400-84427600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:84426800-84427200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:84426800-84427400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:84427400-84427800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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