Variant report

Variant	esv3327765
Chromosome Location	chr12:11067335-11069333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11065171..11067807-chr12:11068288..11070979,2	K562	blood:
2	chr12:11065171..11067807-chr12:11068288..11070979,2	K562	blood:
3	chr12:11062779..11064988-chr12:11068895..11070705,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547565230	chr12:11067342-11067343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567704446	chr12:11067358-11067359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557533310	chr12:11067362-11067363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536764949	chr12:11067456-11067457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149546284	chr12:11067523-11067524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7398041	chr12:11067524-11067525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs538911068	chr12:11067544-11067545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148198756	chr12:11067578-11067579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572136090	chr12:11067583-11067584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541180846	chr12:11067596-11067597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560931586	chr12:11067660-11067661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574168482	chr12:11067681-11067682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554072217	chr12:11067710-11067711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192072137	chr12:11067722-11067723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16925519	chr12:11067924-11067925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532009047	chr12:11067926-11067927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551785278	chr12:11067950-11067951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565614362	chr12:11067952-11067953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12811148	chr12:11067996-11067997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542656326	chr12:11067997-11067998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527979359	chr12:11068042-11068043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200932554	chr12:11068047-11068048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202192744	chr12:11068048-11068049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547941262	chr12:11068143-11068144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567777781	chr12:11068176-11068177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141177328	chr12:11068220-11068221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374292831	chr12:11068298-11068299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200386927	chr12:11068299-11068300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147380630	chr12:11068395-11068396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139600241	chr12:11068404-11068405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143989194	chr12:11068407-11068408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558688955	chr12:11068424-11068425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147306498	chr12:11068430-11068431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534636086	chr12:11068433-11068434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61914786	chr12:11068453-11068454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554717964	chr12:11068538-11068539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139969706	chr12:11068575-11068576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183968634	chr12:11068609-11068610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556686243	chr12:11068611-11068612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188641055	chr12:11068639-11068640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535411521	chr12:11068656-11068657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193164259	chr12:11068698-11068699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559106041	chr12:11068716-11068717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527949443	chr12:11068719-11068720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555404089	chr12:11068770-11068771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184991107	chr12:11068787-11068788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374238940	chr12:11068874-11068875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201811057	chr12:11068880-11068881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372841947	chr12:11068882-11068883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375956182	chr12:11068883-11068884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11039200-11070200	Weak transcription	Left Ventricle	heart
3	chr12:11054400-11084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:11058000-11081200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:11058200-11081800	Weak transcription	Aorta	Aorta
6	chr12:11060600-11068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:11061600-11079800	Weak transcription	HepG2	liver
8	chr12:11065200-11067600	Weak transcription	Placenta	Placenta
9	chr12:11065200-11093000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:11069000-11069200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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