Variant report

Variant	nsv526689
Chromosome Location	chr12:7729433-7735131
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	chr12:7340882..7343587-chr12:7731420..7733234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255572	chromatin interactions
ENSG00000139197	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36032260	chr12:7731427-7731428	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11054590	chr12:7731490-7731491	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191330018	chr12:7731493-7731494	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75166116	chr12:7731494-7731495	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11054592	chr12:7731561-7731562	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2110217	chr12:7731569-7731570	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529689329	chr12:7731642-7731643	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs180751112	chr12:7731644-7731645	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11054593	chr12:7731672-7731673	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186048165	chr12:7731685-7731686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11054594	chr12:7731703-7731704	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192107046	chr12:7731713-7731714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11054595	chr12:7731726-7731727	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35874378	chr12:7731746-7731747	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183406090	chr12:7731813-7731814	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370147513	chr12:7731942-7731943	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188054636	chr12:7731984-7731985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552409577	chr12:7731989-7731990	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12302295	chr12:7732037-7732038	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146789764	chr12:7732038-7732039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529485478	chr12:7732063-7732064	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190629944	chr12:7732087-7732088	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183137788	chr12:7732124-7732125	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569327717	chr12:7732213-7732214	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs4883002	chr12:7732274-7732275	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376224740	chr12:7732354-7732355	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188123594	chr12:7732355-7732356	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192746183	chr12:7732377-7732378	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs184259725	chr12:7732386-7732387	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11054598	chr12:7732403-7732404	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375650270	chr12:7732406-7732407	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537444997	chr12:7732439-7732440	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187623604	chr12:7732499-7732500	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11054599	chr12:7732563-7732564	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191431980	chr12:7732564-7732565	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11054600	chr12:7732579-7732580	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11054601	chr12:7732636-7732637	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570817382	chr12:7732748-7732749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184685062	chr12:7732749-7732750	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149200329	chr12:7732783-7732784	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189427959	chr12:7732803-7732804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143354442	chr12:7732804-7732805	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200909880	chr12:7732904-7732905	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11054604	chr12:7732931-7732932	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370651633	chr12:7732938-7732939	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115219271	chr12:7732941-7732942	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150949036	chr12:7732962-7732963	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs55766115	chr12:7733035-7733036	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574371138	chr12:7733077-7733078	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371086605	chr12:7733080-7733081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7733200-7734400	Enhancers	Placenta	Placenta
2	chr12:7734400-7735600	Weak transcription	Placenta	Placenta

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