Variant report

Variant	esv3327407
Chromosome Location	chr12:84427533-84453077
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	chr12:84449070..84451630-chr12:84460608..84463316,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151051610	chr12:84427550-84427551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183835451	chr12:84427562-84427563	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531634837	chr12:84427568-84427569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549768639	chr12:84427579-84427580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569251432	chr12:84427580-84427581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560967097	chr12:84427589-84427590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188561133	chr12:84427616-84427617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539425420	chr12:84427617-84427618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372370026	chr12:84427657-84427658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566659192	chr12:84427658-84427659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534019518	chr12:84427668-84427669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555588457	chr12:84427673-84427674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573850853	chr12:84427702-84427703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544903938	chr12:84427710-84427711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556549681	chr12:84427714-84427715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529797497	chr12:84427716-84427717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546567580	chr12:84427717-84427718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578180049	chr12:84427726-84427727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180761244	chr12:84427727-84427728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544713063	chr12:84427741-84427742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560178969	chr12:84427789-84427790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552882417	chr12:84436627-84436628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574722594	chr12:84436647-84436648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535341321	chr12:84436768-84436769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183435699	chr12:84436769-84436770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576471893	chr12:84436784-84436785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543956886	chr12:84436791-84436792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188140238	chr12:84436818-84436819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577401400	chr12:84436828-84436829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541654177	chr12:84436831-84436832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75254320	chr12:84436860-84436861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530428269	chr12:84436883-84436884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548562946	chr12:84436944-84436945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140114746	chr12:84436957-84436958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530449572	chr12:84436961-84436962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182788586	chr12:84436985-84436986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570251354	chr12:84437003-84437004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115213646	chr12:84437033-84437034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546775171	chr12:84437041-84437042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568122011	chr12:84437042-84437043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375632367	chr12:84437076-84437077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113742956	chr12:84437098-84437099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556947752	chr12:84437135-84437136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186789174	chr12:84437139-84437140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537478290	chr12:84437146-84437147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558984187	chr12:84437162-84437163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577462721	chr12:84437181-84437182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541121725	chr12:84437230-84437231	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145844007	chr12:84437231-84437232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377339159	chr12:84437274-84437275	Enhancers Active TSS	n/a	n/a	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84426400-84427600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:84427400-84427800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:84436600-84437400	Enhancers	HepG2	liver
4	chr12:84436800-84437400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:84437200-84437800	Active TSS	A549	lung
6	chr12:84441600-84442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:84452000-84452400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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