Variant report

Variant	nsv1039828
Chromosome Location	chr12:83620899-83671726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:
2	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:
3	chr12:83650313..83652424-chr12:83654399..83655919,2	K562	blood:
4	chr12:83650313..83652424-chr12:83654399..83655919,2	K562	blood:

Extended variants
information (count: 297 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558781818	chr12:83622090-83622091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577190088	chr12:83622094-83622095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79919611	chr12:83622095-83622096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544548130	chr12:83622152-83622153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531681431	chr12:83622169-83622170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550162452	chr12:83622178-83622179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373657022	chr12:83622203-83622204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111982194	chr12:83622209-83622210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551311522	chr12:83622216-83622217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566423028	chr12:83622241-83622242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188687781	chr12:83622257-83622258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548722384	chr12:83622273-83622274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548819172	chr12:83622308-83622309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567044733	chr12:83622360-83622361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537510366	chr12:83622391-83622392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111665676	chr12:83626619-83626620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575695851	chr12:83626636-83626637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376461275	chr12:83626637-83626638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189597053	chr12:83626645-83626646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560403657	chr12:83626676-83626677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564510673	chr12:83626686-83626687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151044616	chr12:83626689-83626690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115670789	chr12:83626778-83626779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373058183	chr12:83626796-83626797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376289789	chr12:83626801-83626802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116182998	chr12:83626823-83626824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs35818016	chr12:83626858-83626859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181917853	chr12:83626887-83626888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115248724	chr12:83626892-83626893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533543426	chr12:83626915-83626916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532076461	chr12:83626943-83626944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186292640	chr12:83626956-83626957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189885324	chr12:83626963-83626964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs182145586	chr12:83626979-83626980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs550183845	chr12:83627021-83627022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186468365	chr12:83627022-83627023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568357627	chr12:83627061-83627062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80100577	chr12:83627077-83627078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398076799	chr12:83627088-83627089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398020371	chr12:83627089-83627090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557851311	chr12:83627120-83627121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557196814	chr12:83627194-83627195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577731882	chr12:83627242-83627243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191346495	chr12:83627264-83627265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183583681	chr12:83627272-83627273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536881510	chr12:83627325-83627326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140987497	chr12:83627339-83627340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4522242	chr12:83627362-83627363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533565701	chr12:83627385-83627386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113774501	chr12:83627389-83627390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83622000-83622400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:83626600-83627000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:83627000-83628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83628400-83628800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:83628400-83629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:83628600-83628800	Enhancers	Colon Smooth Muscle	Colon
7	chr12:83630400-83631000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:83637000-83638200	Enhancers	Fetal Lung	lung
9	chr12:83651200-83652200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:83659200-83660400	Enhancers	Colon Smooth Muscle	Colon

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