Variant report

Variant	esv3490341
Chromosome Location	chr12:85363335-85364585
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	chr12:85360927..85363547-chr12:85363750..85365430,2	K562	blood:
2	chr12:85360927..85363547-chr12:85363750..85365430,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115280135	chr12:85363352-85363353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528885363	chr12:85363371-85363372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531626869	chr12:85363392-85363393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550057468	chr12:85363456-85363457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368163833	chr12:85363462-85363463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571469294	chr12:85363468-85363469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12322028	chr12:85363474-85363475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551617480	chr12:85363557-85363558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143612737	chr12:85363584-85363585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533985714	chr12:85363598-85363599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542652146	chr12:85363634-85363635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372867777	chr12:85363656-85363657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567283636	chr12:85363669-85363670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148067070	chr12:85363672-85363673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556414582	chr12:85363708-85363709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187903412	chr12:85363711-85363712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112200483	chr12:85363716-85363717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559362438	chr12:85363722-85363723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564873591	chr12:85363724-85363725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545565086	chr12:85363731-85363732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532132604	chr12:85363803-85363804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145021908	chr12:85363811-85363812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191560969	chr12:85363870-85363871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553612593	chr12:85363883-85363884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182730646	chr12:85363909-85363910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542298482	chr12:85363927-85363928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113903284	chr12:85363969-85363970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370251548	chr12:85363984-85363985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560875165	chr12:85364064-85364065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531285653	chr12:85364067-85364068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76456628	chr12:85364113-85364114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112368380	chr12:85364126-85364127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186681415	chr12:85364166-85364167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138810300	chr12:85364180-85364181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550599132	chr12:85364181-85364182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11829341	chr12:85364183-85364184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85341800-85363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:85362400-85363600	Enhancers	NHEK	skin
3	chr12:85362600-85363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:85363200-85363800	Enhancers	HMEC	breast
5	chr12:85363400-85364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:85363800-85364000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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