Variant report

Variant	nsv983255
Chromosome Location	chr12:86767148-86773995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547120907	chr12:86767155-86767156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567171488	chr12:86767167-86767168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527944232	chr12:86767203-86767204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368223208	chr12:86767272-86767273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549709449	chr12:86767274-86767275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533450119	chr12:86767331-86767332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184950697	chr12:86767335-86767336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190481587	chr12:86767395-86767396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141775588	chr12:86767432-86767433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143658047	chr12:86767436-86767437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371575535	chr12:86767444-86767445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57145324	chr12:86767445-86767446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11103943	chr12:86767511-86767512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182199330	chr12:86767512-86767513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75943766	chr12:86767516-86767517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553796221	chr12:86767525-86767526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572109869	chr12:86767535-86767536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569947607	chr12:86767542-86767543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536099923	chr12:86767584-86767585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554456137	chr12:86767712-86767713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575802911	chr12:86767730-86767731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35022223	chr12:86767859-86767860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543278156	chr12:86767863-86767864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564975297	chr12:86767910-86767911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186787862	chr12:86767918-86767919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576914403	chr12:86767936-86767937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541127424	chr12:86767946-86767947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559352888	chr12:86767975-86767976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529732620	chr12:86767976-86767977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549672192	chr12:86767978-86767979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561597648	chr12:86768155-86768156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566431465	chr12:86768221-86768222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531279909	chr12:86768264-86768265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147188864	chr12:86768276-86768277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559268234	chr12:86768291-86768292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192034016	chr12:86768313-86768314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181582783	chr12:86768376-86768377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185808391	chr12:86768406-86768407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565701209	chr12:86768438-86768439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538755076	chr12:86768562-86768563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536266880	chr12:86768603-86768604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190182716	chr12:86768615-86768616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12815932	chr12:86768641-86768642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534864010	chr12:86768649-86768650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537249678	chr12:86768670-86768671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558424115	chr12:86768673-86768674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140654521	chr12:86768760-86768761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540737465	chr12:86768772-86768773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559513701	chr12:86768774-86768775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367965567	chr12:86768833-86768834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86761400-86769600	Weak transcription	Fetal Heart	heart
2	chr12:86768600-86769200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:86769200-86769800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:86769600-86770000	Enhancers	Fetal Heart	heart
5	chr12:86769800-86770000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:86773200-86774400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:86773800-86774200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:86773800-86774400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:86773800-86774600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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