Variant report

Variant	esv3382307
Chromosome Location	chr12:10570635-10572933
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	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205809	chromatin interactions
ENSG00000255641	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34266373	chr12:10570637-10570638	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs72475441	chr12:10570695-10570696	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34653562	chr12:10570724-10570725	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35358675	chr12:10570726-10570727	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530338193	chr12:10570728-10570729	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77748738	chr12:10570730-10570731	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs35374910	chr12:10570747-10570748	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2741883	chr12:10570751-10570752	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs180765128	chr12:10570753-10570754	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142455245	chr12:10570780-10570781	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34521278	chr12:10570781-10570782	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571456158	chr12:10570793-10570794	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142452578	chr12:10570803-10570804	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35847740	chr12:10570817-10570818	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35733839	chr12:10570824-10570825	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs35003485	chr12:10570826-10570827	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34070657	chr12:10570846-10570847	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs35253711	chr12:10570849-10570850	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534677252	chr12:10570852-10570853	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35636223	chr12:10570903-10570904	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186447622	chr12:10570919-10570920	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375226763	chr12:10570935-10570936	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369600351	chr12:10570938-10570939	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138679266	chr12:10570946-10570947	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs2682495	chr12:10570965-10570966	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147422977	chr12:10570966-10570967	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555496450	chr12:10570988-10570989	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35805907	chr12:10571001-10571002	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs139754201	chr12:10571003-10571004	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143660199	chr12:10571012-10571013	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372874912	chr12:10571022-10571023	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376504148	chr12:10571023-10571024	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1138437	chr12:10571024-10571025	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370591743	chr12:10571037-10571038	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2741882	chr12:10571042-10571043	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199933201	chr12:10571070-10571071	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559423951	chr12:10571086-10571087	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572810555	chr12:10571088-10571089	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2682494	chr12:10571091-10571092	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150804808	chr12:10571094-10571095	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2682493	chr12:10571106-10571107	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369756210	chr12:10571127-10571128	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549999192	chr12:10571133-10571134	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139190211	chr12:10571155-10571156	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10743890	chr12:10571158-10571159	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4394921	chr12:10571177-10571178	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181755884	chr12:10571220-10571221	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34473712	chr12:10571224-10571225	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs35695127	chr12:10571226-10571227	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs35121136	chr12:10571231-10571232	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10562200-10572800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:10570200-10571600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10570400-10571400	Active TSS	Hela-S3	cervix
4	chr12:10570600-10572600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:10571400-10572600	Weak transcription	Hela-S3	cervix
6	chr12:10571600-10573800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:10572600-10573000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr12:10572600-10573200	Active TSS	Hela-S3	cervix
9	chr12:10572600-10573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:10572800-10573000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:10572800-10573600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:10572800-10573600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:10572800-10573600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:10572800-10573600	Enhancers	A549	lung
15	chr12:10572800-10573600	Enhancers	Osteobl	bone
16	chr12:10572800-10573800	Enhancers	HUVEC	blood vessel

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