Variant report

Variant	nsv976573
Chromosome Location	chr12:10569684-10572125
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: 138 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565884680	chr12:10569745-10569746	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2447704	chr12:10569767-10569768	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529974830	chr12:10569820-10569821	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2447705	chr12:10569829-10569830	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543687719	chr12:10569865-10569866	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189579492	chr12:10569920-10569921	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34983658	chr12:10569929-10569930	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532169570	chr12:10569939-10569940	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528386976	chr12:10569956-10569957	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61919129	chr12:10570007-10570008	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2447706	chr12:10570010-10570011	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs191562292	chr12:10570032-10570033	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17548976	chr12:10570098-10570099	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528186872	chr12:10570146-10570147	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35758051	chr12:10570171-10570172	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35029860	chr12:10570179-10570180	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72475440	chr12:10570212-10570213	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79683431	chr12:10570254-10570255	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs79870015	chr12:10570255-10570256	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567824388	chr12:10570256-10570257	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536576565	chr12:10570274-10570275	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556831900	chr12:10570288-10570289	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368242937	chr12:10570293-10570294	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538648148	chr12:10570334-10570335	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114491267	chr12:10570354-10570355	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572243546	chr12:10570369-10570370	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183667890	chr12:10570391-10570392	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554504352	chr12:10570403-10570404	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574593377	chr12:10570457-10570458	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188289141	chr12:10570468-10570469	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137963237	chr12:10570480-10570481	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111688600	chr12:10570494-10570495	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532407792	chr12:10570504-10570505	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545856437	chr12:10570508-10570509	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12816403	chr12:10570509-10570510	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559389022	chr12:10570524-10570525	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528222247	chr12:10570557-10570558	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548250858	chr12:10570583-10570584	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575931593	chr12:10570591-10570592	Transcr. at gene 5' and 3' Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34692312	chr12:10570605-10570606	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34266373	chr12:10570637-10570638	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	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
43	rs34653562	chr12:10570724-10570725	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs35358675	chr12:10570726-10570727	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530338193	chr12:10570728-10570729	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77748738	chr12:10570730-10570731	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35374910	chr12:10570747-10570748	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2741883	chr12:10570751-10570752	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs180765128	chr12:10570753-10570754	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142455245	chr12:10570780-10570781	Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 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	chr12:10564400-10570200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:10569200-10570200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10569200-10570200	Weak transcription	Hela-S3	cervix
5	chr12:10570200-10570400	Flanking Active TSS	Hela-S3	cervix
6	chr12:10570200-10570600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr12:10570200-10571600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:10570400-10571400	Active TSS	Hela-S3	cervix
9	chr12:10570600-10572600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10571400-10572600	Weak transcription	Hela-S3	cervix
11	chr12:10571600-10573800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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