Variant report

Variant	nsv976539
Chromosome Location	chr12:32917222-32919922
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	chr12:32907852..32910809-chr12:32917627..32921170,3	K562	blood:

Variant related genes	Relation type
ENSG00000139131	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571362609	chr12:32917654-32917655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527423795	chr12:32917723-32917724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367755608	chr12:32917725-32917726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547989587	chr12:32917737-32917738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111620274	chr12:32917771-32917772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564054635	chr12:32917777-32917778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7307037	chr12:32917842-32917843	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145615521	chr12:32917852-32917853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556590132	chr12:32917860-32917861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7135858	chr12:32917862-32917863	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538654759	chr12:32917876-32917877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558953681	chr12:32917937-32917938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572193888	chr12:32918043-32918044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372117625	chr12:32918160-32918161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541153005	chr12:32918170-32918171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111399431	chr12:32918184-32918185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573515045	chr12:32918193-32918194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77813572	chr12:32918203-32918204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562642216	chr12:32918210-32918211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141428863	chr12:32918218-32918219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10771991	chr12:32918230-32918231	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs564907875	chr12:32918263-32918264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527353216	chr12:32918289-32918290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547530468	chr12:32918294-32918295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567821084	chr12:32918321-32918322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530235951	chr12:32918330-32918331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10771992	chr12:32918362-32918363	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547735346	chr12:32918477-32918478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539357165	chr12:32918543-32918544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145188022	chr12:32918549-32918550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372715877	chr12:32918574-32918575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534757011	chr12:32918667-32918668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77694395	chr12:32918686-32918687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566357293	chr12:32918756-32918757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148374275	chr12:32918841-32918842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377077785	chr12:32918844-32918845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573731331	chr12:32918869-32918870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs67957830	chr12:32918876-32918877	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4511366	chr12:32918900-32918901	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576242259	chr12:32918906-32918907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181734914	chr12:32918918-32918919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138232115	chr12:32918964-32918965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143896606	chr12:32918983-32918984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184532416	chr12:32918985-32918986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111346736	chr12:32919005-32919006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560964783	chr12:32919118-32919119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs4348985	chr12:32919154-32919155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112834130	chr12:32919205-32919206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529839636	chr12:32919208-32919209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558339284	chr12:32919210-32919211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32919600-32920200	Enhancers	Fetal Lung	lung

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