Variant report

Variant	nsv975654
Chromosome Location	chr12:84592268-84605644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
2	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
3	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
4	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
5	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225499	chromatin interactions
ENSG00000204511	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143870334	chr12:84600551-84600552	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183649876	chr12:84600569-84600570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146306643	chr12:84600616-84600617	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555794523	chr12:84600632-84600633	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139143859	chr12:84600634-84600635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543834340	chr12:84600638-84600639	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs555725658	chr12:84600678-84600679	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78446903	chr12:84600684-84600685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544774097	chr12:84600748-84600749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560149818	chr12:84600790-84600791	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188528653	chr12:84600794-84600795	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2929815	chr12:84600810-84600811	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149366020	chr12:84600829-84600830	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531611898	chr12:84600833-84600834	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368032830	chr12:84600859-84600860	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541401735	chr12:84600868-84600869	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561290199	chr12:84600872-84600873	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192829618	chr12:84600909-84600910	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562857973	chr12:84600938-84600939	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs78980645	chr12:84600980-84600981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551587461	chr12:84601012-84601013	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566916434	chr12:84601018-84601019	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534144434	chr12:84601033-84601034	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373217012	chr12:84601052-84601053	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567653672	chr12:84601065-84601066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538140297	chr12:84601073-84601074	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555787122	chr12:84601123-84601124	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577225444	chr12:84601149-84601150	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7956052	chr12:84601156-84601157	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183020037	chr12:84601236-84601237	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs75367574	chr12:84601241-84601242	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542482902	chr12:84601256-84601257	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370563343	chr12:84601267-84601268	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs73164233	chr12:84601319-84601320	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530326064	chr12:84601341-84601342	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144727969	chr12:84601397-84601398	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs74106414	chr12:84601400-84601401	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371925198	chr12:84601429-84601430	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs386377188	chr12:84601430-84601431	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs71072041	chr12:84601447-84601448	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2929816	chr12:84601450-84601451	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563866045	chr12:84601479-84601480	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531286713	chr12:84601524-84601525	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551717346	chr12:84601572-84601573	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs560403379	chr12:84601581-84601582	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148572045	chr12:84601598-84601599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549353545	chr12:84601617-84601618	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567518440	chr12:84601623-84601624	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370927835	chr12:84601629-84601630	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186568591	chr12:84601634-84601635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84605400-84605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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