Variant report

Variant	esv3360267
Chromosome Location	chr12:119324669-119326567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:119326465-119326664	HepG2	liver:	n/a	chr12:119326562-119326573
2	CEBPB	chr12:119326498-119326718	K562	blood:	n/a	chr12:119326562-119326573

Variant related genes	Relation type
ENSG00000201042	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4766920	chr12:119324695-119324696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560044165	chr12:119324696-119324697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573498308	chr12:119324709-119324710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75592682	chr12:119324718-119324719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562545419	chr12:119324741-119324742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146330387	chr12:119324763-119324764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139650841	chr12:119324800-119324801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75700198	chr12:119324820-119324821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114437457	chr12:119324825-119324826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142775271	chr12:119324872-119324873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567210231	chr12:119324939-119324940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535784733	chr12:119324942-119324943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191291175	chr12:119324943-119324944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368222963	chr12:119324948-119324949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147751498	chr12:119325005-119325006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149773865	chr12:119325006-119325007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544696929	chr12:119325007-119325008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10628257	chr12:119325008-119325009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397704925	chr12:119325010-119325011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569374650	chr12:119325030-119325031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183892056	chr12:119325055-119325056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78834354	chr12:119325084-119325085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189398851	chr12:119325092-119325093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546985673	chr12:119325103-119325104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553642714	chr12:119325162-119325163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193293326	chr12:119325168-119325169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374620308	chr12:119325184-119325185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4767734	chr12:119325193-119325194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61939760	chr12:119325233-119325234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185153418	chr12:119325236-119325237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139699609	chr12:119325243-119325244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10128764	chr12:119325335-119325336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367576788	chr12:119325365-119325366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200102752	chr12:119325371-119325372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150818736	chr12:119325373-119325374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190045434	chr12:119325387-119325388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11069145	chr12:119325400-119325401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560491848	chr12:119325427-119325428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529565711	chr12:119325429-119325430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549429231	chr12:119325442-119325443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35950124	chr12:119325443-119325444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397700497	chr12:119325452-119325453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28811628	chr12:119325519-119325520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71069480	chr12:119325650-119325651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181743742	chr12:119325679-119325680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368455490	chr12:119325698-119325699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538085134	chr12:119325709-119325710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111372597	chr12:119325710-119325711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116358157	chr12:119325721-119325722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533644316	chr12:119325767-119325768	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119321200-119325000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:119321200-119327600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:119325000-119325400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:119325400-119327400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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