Variant report

Variant	esv3403496
Chromosome Location	chr12:86272421-86274319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554267976	chr12:86272447-86272448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575699668	chr12:86272566-86272567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181742519	chr12:86272570-86272571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562921533	chr12:86272573-86272574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578229147	chr12:86272590-86272591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538586695	chr12:86272642-86272643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569069931	chr12:86272675-86272676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557104992	chr12:86272805-86272806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552917366	chr12:86272812-86272813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111958115	chr12:86272814-86272815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371726250	chr12:86272817-86272818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12304244	chr12:86272823-86272824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573075126	chr12:86272834-86272835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140317473	chr12:86272856-86272857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11117066	chr12:86272857-86272858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374131438	chr12:86272867-86272868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560727641	chr12:86272878-86272879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573387108	chr12:86272886-86272887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188615762	chr12:86272889-86272890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368080015	chr12:86272892-86272893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375596635	chr12:86272899-86272900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180745674	chr12:86272906-86272907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565163198	chr12:86272921-86272922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371020490	chr12:86272931-86272932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185201206	chr12:86272938-86272939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5799760	chr12:86272963-86272964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369232484	chr12:86272966-86272967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11117067	chr12:86272970-86272971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190847789	chr12:86272984-86272985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182582799	chr12:86272985-86272986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200671600	chr12:86272994-86272995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5020968	chr12:86272997-86272998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5020967	chr12:86273001-86273002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5020966	chr12:86273015-86273016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572823521	chr12:86273016-86273017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368967776	chr12:86273025-86273026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373740200	chr12:86273028-86273029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377098371	chr12:86273031-86273032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369316891	chr12:86273034-86273035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372649162	chr12:86273042-86273043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373539048	chr12:86273054-86273055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11117068	chr12:86273060-86273061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11117069	chr12:86273061-86273062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11117070	chr12:86273073-86273074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12312795	chr12:86273087-86273088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12311338	chr12:86273088-86273089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376804099	chr12:86273101-86273102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186949800	chr12:86273104-86273105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370981770	chr12:86273128-86273129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193093942	chr12:86273149-86273150	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
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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86271600-86273400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:86272000-86272800	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:86272200-86272800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:86272800-86274400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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