Variant report

Variant	esv3443437
Chromosome Location	chr12:106920534-106948432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 327 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs537733634	chr12:106920651-106920652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557337990	chr12:106920665-106920666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142489027	chr12:106920698-106920699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144935075	chr12:106920719-106920720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536207225	chr12:106920732-106920733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553515994	chr12:106920748-106920749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183238045	chr12:106920781-106920782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78062315	chr12:106920784-106920785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147954450	chr12:106920830-106920831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575481461	chr12:106920833-106920834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187355496	chr12:106920858-106920859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116731056	chr12:106920948-106920949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368011660	chr12:106921066-106921067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546237804	chr12:106921079-106921080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372193541	chr12:106921095-106921096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141176546	chr12:106921124-106921125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551593011	chr12:106921143-106921144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571522513	chr12:106921152-106921153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563990968	chr12:106921163-106921164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570443594	chr12:106921183-106921184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201289085	chr12:106921189-106921190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143434828	chr12:106921198-106921199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537221280	chr12:106921205-106921206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148017208	chr12:106921207-106921208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11113027	chr12:106921221-106921222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536693596	chr12:106921276-106921277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374613526	chr12:106921301-106921302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573399374	chr12:106921331-106921332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192259518	chr12:106921344-106921345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565912088	chr12:106921348-106921349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367878241	chr12:106921349-106921350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115289548	chr12:106921355-106921356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575416224	chr12:106921358-106921359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544028521	chr12:106921370-106921371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184681033	chr12:106921378-106921379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574635224	chr12:106921405-106921406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112011825	chr12:106921453-106921454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559702018	chr12:106921467-106921468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150107531	chr12:106921481-106921482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12579583	chr12:106921489-106921490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562398580	chr12:106921516-106921517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377239140	chr12:106921525-106921526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568256254	chr12:106921538-106921539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531146310	chr12:106921552-106921553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550887525	chr12:106921554-106921555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58450022	chr12:106921559-106921560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398076941	chr12:106921562-106921563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397693922	chr12:106921563-106921564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200147151	chr12:106921564-106921565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565956735	chr12:106921575-106921576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106920600-106921800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:106920800-106921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:106920800-106921600	Enhancers	HUVEC	blood vessel
4	chr12:106921000-106921400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:106921000-106921600	Enhancers	NH-A	brain
6	chr12:106921200-106921600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:106929400-106929600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:106933800-106934600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:106934600-106935000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:106934800-106935000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:106943200-106943800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr12:106943800-106948800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:106944800-106947200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:106945200-106945400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:106945200-106945600	Active TSS	HepG2	liver
16	chr12:106945400-106945600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:106945400-106945800	Enhancers	K562	blood
18	chr12:106945400-106946400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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