Variant report

Variant	esv3365494
Chromosome Location	chr12:48622835-48624733
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	chr12:48616829..48618488-chr12:48621578..48623927,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183781846	chr12:48622904-48622905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140453536	chr12:48622950-48622951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116517378	chr12:48623067-48623068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377097555	chr12:48623094-48623095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186722083	chr12:48623116-48623117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376961237	chr12:48623124-48623125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553478698	chr12:48623127-48623128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547971806	chr12:48623153-48623154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112568071	chr12:48623180-48623181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373683261	chr12:48623205-48623206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545458557	chr12:48623237-48623238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145192772	chr12:48623264-48623265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576534127	chr12:48623292-48623293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373176241	chr12:48623323-48623324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562397515	chr12:48623363-48623364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548842407	chr12:48623385-48623386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547792167	chr12:48623424-48623425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564447022	chr12:48623443-48623444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112557871	chr12:48623449-48623450	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs79303277	chr12:48623456-48623457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550209736	chr12:48623525-48623526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200821607	chr12:48623530-48623531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376684675	chr12:48623531-48623532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538031984	chr12:48623532-48623533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11168476	chr12:48623542-48623543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11168477	chr12:48623544-48623545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34593858	chr12:48623547-48623548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142665343	chr12:48623551-48623552	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs11168478	chr12:48623552-48623553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143820610	chr12:48623554-48623555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370755884	chr12:48623555-48623556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11168479	chr12:48623556-48623557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200473427	chr12:48623563-48623564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398116420	chr12:48623564-48623565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566727173	chr12:48623565-48623566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12827175	chr12:48623566-48623567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs12828269	chr12:48623567-48623568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553366686	chr12:48623573-48623574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12827185	chr12:48623574-48623575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12826682	chr12:48623576-48623577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576387234	chr12:48623578-48623579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539163250	chr12:48623583-48623584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12827188	chr12:48623584-48623585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552955281	chr12:48623587-48623588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563866849	chr12:48623588-48623589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70940532	chr12:48623589-48623590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112656976	chr12:48623620-48623621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202014436	chr12:48623628-48623629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12826871	chr12:48623630-48623631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377063404	chr12:48623638-48623639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48612000-48629600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:48612200-48635600	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:48619600-48627200	Weak transcription	Primary monocytes fromperipheralblood	blood

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