Variant report

Variant	nsv1047553
Chromosome Location	chr12:33288946-33302650
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	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
2	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145867190	chr12:33292003-33292004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73098675	chr12:33292039-33292040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538938926	chr12:33292056-33292057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183509485	chr12:33292115-33292116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559324693	chr12:33292117-33292118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187764356	chr12:33292156-33292157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192393736	chr12:33292168-33292169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555003943	chr12:33292195-33292196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574944950	chr12:33292216-33292217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184729989	chr12:33292218-33292219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556057646	chr12:33292228-33292229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55801348	chr12:33292237-33292238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552761486	chr12:33292254-33292255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544960404	chr12:33292277-33292278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189571570	chr12:33292300-33292301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191860338	chr12:33292366-33292367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540579319	chr12:33292497-33292498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7977532	chr12:33292503-33292504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529722926	chr12:33292507-33292508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184294197	chr12:33292533-33292534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532256334	chr12:33292538-33292539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570131550	chr12:33292541-33292542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532701248	chr12:33292566-33292567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528035015	chr12:33292571-33292572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551374347	chr12:33292572-33292573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570982292	chr12:33292579-33292580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552909562	chr12:33292581-33292582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566424067	chr12:33292604-33292605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148163412	chr12:33292623-33292624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141854883	chr12:33292658-33292659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150192371	chr12:33292662-33292663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189064449	chr12:33292671-33292672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557391260	chr12:33292744-33292745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576165411	chr12:33292816-33292817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544756128	chr12:33292818-33292819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558326116	chr12:33292912-33292913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572047427	chr12:33292936-33292937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181805844	chr12:33292979-33292980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367857402	chr12:33293037-33293038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12427282	chr12:33293041-33293042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138848942	chr12:33293042-33293043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543164047	chr12:33293044-33293045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35187168	chr12:33293078-33293079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563351327	chr12:33293088-33293089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187299636	chr12:33293135-33293136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552846137	chr12:33293177-33293178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202158925	chr12:33300610-33300611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559907140	chr12:33300622-33300623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369295573	chr12:33300626-33300627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376806199	chr12:33300677-33300678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
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	17899364	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	18451855	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33292000-33293200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:33300600-33300800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:33300800-33304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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