Variant report

Variant	esv2755360
Chromosome Location	chr12:83843007-83857774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83844821..83846448-chr12:83854744..83857324,2	K562	blood:
2	chr12:83856124..83856792-chr12:84890820..84891796,2	MCF-7	breast:
3	chr12:83844821..83846448-chr12:83854744..83857324,2	K562	blood:
4	chr12:83856040..83856789-chr12:84217180..84218034,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC59-5	chr12:83850418-83852731	XLOC_010142

Extended variants
information (count: 399 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536422494	chr12:83848009-83848010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555361784	chr12:83848025-83848026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554675336	chr12:83848042-83848043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576039182	chr12:83848087-83848088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574023511	chr12:83848107-83848108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541389615	chr12:83848217-83848218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115989353	chr12:83848239-83848240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553512345	chr12:83848277-83848278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2130635	chr12:83848278-83848279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541341613	chr12:83848279-83848280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376199013	chr12:83848311-83848312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530259208	chr12:83848319-83848320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190204387	chr12:83848374-83848375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563847214	chr12:83848413-83848414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530908840	chr12:83848450-83848451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552596400	chr12:83848455-83848456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545638134	chr12:83848461-83848462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564484664	chr12:83848468-83848469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566573371	chr12:83848510-83848511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547733652	chr12:83848514-83848515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565955994	chr12:83848576-83848577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536479336	chr12:83848580-83848581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548070014	chr12:83848588-83848589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559885350	chr12:83848614-83848615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569777784	chr12:83848617-83848618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536750108	chr12:83848618-83848619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558581273	chr12:83848648-83848649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115504758	chr12:83848651-83848652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7308884	chr12:83848665-83848666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144660957	chr12:83848674-83848675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574784787	chr12:83848728-83848729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542457710	chr12:83848735-83848736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139539870	chr12:83848742-83848743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575756714	chr12:83848748-83848749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545994617	chr12:83848802-83848803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182691166	chr12:83848809-83848810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528521285	chr12:83848812-83848813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199927479	chr12:83848829-83848830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543352844	chr12:83848834-83848835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61929383	chr12:83848860-83848861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75070498	chr12:83848862-83848863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151121105	chr12:83848874-83848875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528870510	chr12:83848906-83848907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117214546	chr12:83848962-83848963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559723265	chr12:83848964-83848965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144268438	chr12:83848971-83848972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529941360	chr12:83848993-83848994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187634841	chr12:83849004-83849005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565461366	chr12:83849058-83849059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146587380	chr12:83849067-83849068	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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83848000-83857000	Weak transcription	Fetal Heart	heart
2	chr12:83854800-83855600	Enhancers	Fetal Lung	lung
3	chr12:83854800-83855800	Enhancers	Hela-S3	cervix
4	chr12:83855000-83855800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:83857000-83857400	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr12:83857000-83858200	Enhancers	Fetal Heart	heart

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