Variant report

Variant	esv2585414
Chromosome Location	chr12:56461401-56463400
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	chr12:56460906..56463443-chr12:56465823..56468206,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2640566	chr12:56461432-56461433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548766530	chr12:56461466-56461467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542110701	chr12:56461505-56461506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548597756	chr12:56461517-56461518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531059843	chr12:56461577-56461578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192004290	chr12:56461578-56461579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200552651	chr12:56461583-56461584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146724603	chr12:56461586-56461587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2934150	chr12:56461642-56461643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2940411	chr12:56461645-56461646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71459339	chr12:56461655-56461656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs534422754	chr12:56461730-56461731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552704454	chr12:56461749-56461750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574291498	chr12:56461750-56461751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201852535	chr12:56461755-56461756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200540203	chr12:56461772-56461773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201804991	chr12:56461774-56461775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556963747	chr12:56461776-56461777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111714790	chr12:56461783-56461784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575525938	chr12:56461795-56461796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543427350	chr12:56461808-56461809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11171735	chr12:56461810-56461811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74626045	chr12:56461811-56461812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184187268	chr12:56461858-56461859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541541121	chr12:56461869-56461870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114828934	chr12:56461899-56461900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188568462	chr12:56461912-56461913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532179445	chr12:56461960-56461961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11171736	chr12:56461977-56461978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563800536	chr12:56461993-56461994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531250461	chr12:56462057-56462058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180973303	chr12:56462066-56462067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113257455	chr12:56462072-56462073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377466827	chr12:56462075-56462076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551962751	chr12:56462083-56462084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565800703	chr12:56462123-56462124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534360885	chr12:56462155-56462156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113415942	chr12:56462224-56462225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10467121	chr12:56462225-56462226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568179635	chr12:56462318-56462319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10467122	chr12:56462323-56462324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190742569	chr12:56462383-56462384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557143863	chr12:56462423-56462424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575415829	chr12:56462433-56462434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182088758	chr12:56462442-56462443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112255530	chr12:56462462-56462463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186022094	chr12:56462475-56462476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139672073	chr12:56462534-56462535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113726332	chr12:56462586-56462587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577308251	chr12:56462624-56462625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	17982442	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56456000-56465800	Weak transcription	Placenta Amnion	Placenta Amnion

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