Variant report

Variant	nsv1038670
Chromosome Location	chr12:60953171-61020723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:61018293..61020271-chr12:61020721..61022454,2	MCF-7	breast:
2	chr12:60998461..61000426-chr12:61001994..61004254,2	K562	blood:
3	chr12:61018293..61020271-chr12:61020721..61022454,2	MCF-7	breast:
4	chr12:60981754..60983599-chr17:41400533..41402303,2	MCF-7	breast:
5	chr12:60998461..61000426-chr12:61001994..61004254,2	K562	blood:

Extended variants
information (count: 461 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58102812	chr12:60960817-60960818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552169582	chr12:60960860-60960861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74094152	chr12:60960875-60960876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528739704	chr12:60960885-60960886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145277704	chr12:60960886-60960887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568628811	chr12:60960911-60960912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147220854	chr12:60960936-60960937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549799891	chr12:60960938-60960939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372131918	chr12:60960957-60960958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7297806	chr12:60961029-60961030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570088921	chr12:60961042-60961043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533824275	chr12:60961084-60961085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200670042	chr12:60961122-60961123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187718646	chr12:60961164-60961165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139818989	chr12:60961194-60961195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572096800	chr12:60961240-60961241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145346926	chr12:60961319-60961320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554578234	chr12:60961324-60961325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574530569	chr12:60961342-60961343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151166307	chr12:60961389-60961390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371123825	chr12:60961409-60961410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151047299	chr12:60961428-60961429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368342648	chr12:60961468-60961469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546116852	chr12:60961476-60961477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553968693	chr12:60961536-60961537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576911374	chr12:60961588-60961589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142728923	chr12:60973240-60973241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576735830	chr12:60973251-60973252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545782316	chr12:60973341-60973342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569712918	chr12:60973342-60973343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375642796	chr12:60973354-60973355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538546369	chr12:60973384-60973385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150345959	chr12:60973389-60973390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs570867066	chr12:60987801-60987802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533622206	chr12:60987814-60987815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547339865	chr12:60987820-60987821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567036365	chr12:60987857-60987858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116581350	chr12:60987900-60987901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185895167	chr12:60987910-60987911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2455855	chr12:60987918-60987919	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537193174	chr12:60987919-60987920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11838061	chr12:60987945-60987946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs370100285	chr12:60987990-60987991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs58992439	chr12:60988004-60988005	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191479204	chr12:60988024-60988025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112292441	chr12:60988025-60988026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373048175	chr12:60988051-60988052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552830433	chr12:60988077-60988078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573117504	chr12:60988104-60988105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs537281697	chr12:60988112-60988113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60960800-60961600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:60973200-60973400	ZNF genes & repeats	Pancreas	Pancrea
3	chr12:60987800-60988800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:60988800-60994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:60994800-60995200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:61017000-61020400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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