Variant report

Variant	esv991276
Chromosome Location	chr12:84712510-84723623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151223725	chr12:84719409-84719410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531247781	chr12:84719417-84719418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140413595	chr12:84719437-84719438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564706679	chr12:84719484-84719485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528718955	chr12:84719503-84719504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185843940	chr12:84719533-84719534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575362086	chr12:84719537-84719538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190942805	chr12:84719659-84719660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550174180	chr12:84719801-84719802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377264638	chr12:84719806-84719807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367962127	chr12:84719837-84719838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556961174	chr12:84719860-84719861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182708160	chr12:84719861-84719862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187343098	chr12:84719870-84719871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370490429	chr12:84719883-84719884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191211771	chr12:84719892-84719893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182854395	chr12:84719904-84719905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1038313	chr12:84719930-84719931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575024091	chr12:84720000-84720001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542211736	chr12:84720041-84720042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554377534	chr12:84720049-84720050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1038314	chr12:84720059-84720060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150374903	chr12:84720131-84720132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546486062	chr12:84720140-84720141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376589233	chr12:84720191-84720192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118090982	chr12:84720193-84720194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202022375	chr12:84720230-84720231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540504609	chr12:84720249-84720250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561410831	chr12:84720281-84720282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528974397	chr12:84720284-84720285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550110931	chr12:84720285-84720286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574516064	chr12:84720302-84720303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532802415	chr12:84720315-84720316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551652535	chr12:84720316-84720317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200261294	chr12:84720336-84720337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566683791	chr12:84720337-84720338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533976127	chr12:84720344-84720345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4882499	chr12:84720466-84720467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12304091	chr12:84720512-84720513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34298339	chr12:84720535-84720536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398044601	chr12:84720539-84720540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11116312	chr12:84720569-84720570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557353128	chr12:84720580-84720581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532729849	chr12:84720657-84720658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372214372	chr12:84720676-84720677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575704506	chr12:84720690-84720691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545904717	chr12:84720694-84720695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139112182	chr12:84720703-84720704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34745503	chr12:84720733-84720734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573473723	chr12:84720746-84720747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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	22037309	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84719400-84720400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:84719800-84720200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:84720400-84723800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:84723600-84724200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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