Variant report

Variant	esv3365837
Chromosome Location	chr12:11072335-11075133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11060198..11062060-chr12:11071921..11074796,2	MCF-7	breast:
2	chr12:10994716..10997527-chr12:11072038..11073829,2	K562	blood:
3	chr12:11044254..11045058-chr12:11074291..11074831,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575305881	chr12:11072429-11072430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187412328	chr12:11072443-11072444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76580737	chr12:11072450-11072451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577992599	chr12:11072463-11072464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200818148	chr12:11072488-11072489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540153513	chr12:11072495-11072496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7953670	chr12:11072496-11072497	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs529216459	chr12:11072544-11072545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191958014	chr12:11072545-11072546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10772390	chr12:11072615-11072616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs143560037	chr12:11072619-11072620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114362306	chr12:11072663-11072664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76718276	chr12:11072703-11072704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147291600	chr12:11072874-11072875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4360779	chr12:11072907-11072908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs2052179	chr12:11072970-11072971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183035172	chr12:11073038-11073039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549130321	chr12:11073068-11073069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187319482	chr12:11073162-11073163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573983493	chr12:11073176-11073177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569141170	chr12:11073237-11073238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537932612	chr12:11073246-11073247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558280079	chr12:11073260-11073261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371789087	chr12:11073268-11073269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191812183	chr12:11073277-11073278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182616388	chr12:11073326-11073327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373357178	chr12:11073371-11073372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554213818	chr12:11073390-11073391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186874166	chr12:11073568-11073569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148771416	chr12:11073599-11073600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562659062	chr12:11073628-11073629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576230831	chr12:11073667-11073668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542960256	chr12:11073691-11073692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141554417	chr12:11073715-11073716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7968647	chr12:11073768-11073769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs527395809	chr12:11073780-11073781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578214746	chr12:11073786-11073787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560566088	chr12:11073790-11073791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528520589	chr12:11073820-11073821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529526700	chr12:11073821-11073822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545086984	chr12:11073878-11073879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116121371	chr12:11073903-11073904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540861783	chr12:11073915-11073916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569106351	chr12:11073951-11073952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538474322	chr12:11074096-11074097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150902572	chr12:11074164-11074165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376504805	chr12:11074183-11074184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534057922	chr12:11074237-11074238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192723196	chr12:11074298-11074299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554176719	chr12:11074321-11074322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Pancreatic cancer	17952125	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	chr12:11054400-11084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:11058000-11081200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:11058200-11081800	Weak transcription	Aorta	Aorta
5	chr12:11061600-11079800	Weak transcription	HepG2	liver
6	chr12:11065200-11093000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:11070600-11079600	Weak transcription	Gastric	stomach
9	chr12:11070800-11079200	Weak transcription	Left Ventricle	heart
10	chr12:11071400-11079200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:11072200-11092800	Weak transcription	A549	lung

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