Variant report

Variant	nsv559560
Chromosome Location	chr12:83599202-83608767
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	chr12:83594175..83596162-chr12:83607861..83610318,2	K562	blood:

Extended variants
information (count: 315 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7296128	chr12:83599202-83599203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566291010	chr12:83599212-83599213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527818763	chr12:83599222-83599223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111567824	chr12:83599223-83599224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189433585	chr12:83599246-83599247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113491710	chr12:83599274-83599275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371057273	chr12:83599287-83599288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180673035	chr12:83599326-83599327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149492144	chr12:83599342-83599343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185498958	chr12:83599348-83599349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12314265	chr12:83599379-83599380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555264717	chr12:83599392-83599393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538561949	chr12:83599397-83599398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113315583	chr12:83599425-83599426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111617637	chr12:83599426-83599427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553685825	chr12:83599432-83599433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571988413	chr12:83599436-83599437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190003809	chr12:83599473-83599474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528868922	chr12:83599510-83599511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372080059	chr12:83599519-83599520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375048575	chr12:83599539-83599540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573410339	chr12:83599547-83599548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113099648	chr12:83599548-83599549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576065443	chr12:83599586-83599587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543457809	chr12:83599590-83599591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564746145	chr12:83599632-83599633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186913402	chr12:83599646-83599647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111856191	chr12:83599649-83599650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199733129	chr12:83599653-83599654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373215175	chr12:83599654-83599655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66491198	chr12:83599655-83599656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144147926	chr12:83599658-83599659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59165160	chr12:83599661-83599662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550803108	chr12:83599684-83599685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192110027	chr12:83599755-83599756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553046433	chr12:83599767-83599768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530410137	chr12:83599795-83599796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1589124	chr12:83599910-83599911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184036361	chr12:83599923-83599924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530933168	chr12:83599934-83599935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188591919	chr12:83599949-83599950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1589123	chr12:83599960-83599961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7489321	chr12:83599970-83599971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534725939	chr12:83599975-83599976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561177442	chr12:83599981-83599982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370597656	chr12:83599988-83599989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530207281	chr12:83600008-83600009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376461583	chr12:83600021-83600022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536101589	chr12:83600108-83600109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58085252	chr12:83600129-83600130	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83594600-83604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83596600-83604200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:83597000-83604200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:83603800-83605400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:83604200-83604400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:83604200-83604400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:83604200-83604600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:83604200-83604800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:83604200-83605400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:83604200-83605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:83604200-83605800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:83604200-83606000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:83604200-83606400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:83604200-83606400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:83604400-83604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:83604600-83604800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:83604800-83605000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:83604800-83605200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:83604800-83605200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:83604800-83607200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:83605000-83605200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:83605200-83605600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:83605200-83606400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:83605600-83606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:83605800-83606200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:83606200-83606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:83606200-83606600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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