Variant report

Variant	esv3497857
Chromosome Location	chr12:34807688-34808919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77965638	chr12:34807707-34807708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550814185	chr12:34807722-34807723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561215907	chr12:34807723-34807724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77654304	chr12:34807725-34807726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192001794	chr12:34807726-34807727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116180287	chr12:34807743-34807744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183639339	chr12:34807749-34807750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs9668857	chr12:34807751-34807752	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571697564	chr12:34807752-34807753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189028159	chr12:34807775-34807776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142949123	chr12:34807779-34807780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs193024849	chr12:34807791-34807792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185706293	chr12:34807813-34807814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376745395	chr12:34807814-34807815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575968379	chr12:34807836-34807837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538614945	chr12:34807838-34807839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558399584	chr12:34807842-34807843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188168245	chr12:34807849-34807850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540911374	chr12:34807853-34807854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561073265	chr12:34807854-34807855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199503805	chr12:34807875-34807876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201576348	chr12:34807910-34807911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150634793	chr12:34807943-34807944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs191481492	chr12:34807948-34807949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77876359	chr12:34807969-34807970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79523492	chr12:34807994-34807995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74510675	chr12:34807999-34808000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531642263	chr12:34808002-34808003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11833543	chr12:34808012-34808013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs139811731	chr12:34808013-34808014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs116575799	chr12:34808025-34808026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574371585	chr12:34808037-34808038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73325594	chr12:34808059-34808060	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547442648	chr12:34808062-34808063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184094769	chr12:34808075-34808076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575785334	chr12:34808083-34808084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs80289355	chr12:34808107-34808108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550098400	chr12:34808123-34808124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111627677	chr12:34808127-34808128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538306520	chr12:34808132-34808133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558518647	chr12:34808137-34808138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188775202	chr12:34808197-34808198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs564342302	chr12:34808238-34808239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534710991	chr12:34808243-34808244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146793074	chr12:34808252-34808253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12582141	chr12:34808259-34808260	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543625365	chr12:34808278-34808279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11612564	chr12:34808289-34808290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577063762	chr12:34808297-34808298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146529262	chr12:34808305-34808306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
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
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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34798800-34808000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:34808600-34812200	ZNF genes & repeats	Adipose Nuclei	Adipose

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