Variant report

Variant	nsv983272
Chromosome Location	chr12:8955239-8956924
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	chr12:8954325..8956641-chr12:8972949..8974486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256904	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185936725	chr12:8955322-8955323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191185691	chr12:8955357-8955358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541907838	chr12:8955433-8955434	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201152860	chr12:8955439-8955440	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76338027	chr12:8955449-8955450	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117340337	chr12:8955462-8955463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374909919	chr12:8955479-8955480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147694572	chr12:8955480-8955481	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148477359	chr12:8955497-8955498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373448069	chr12:8955501-8955502	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182603086	chr12:8955511-8955512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201734219	chr12:8955656-8955657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142389014	chr12:8955706-8955707	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78589566	chr12:8955817-8955818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117113356	chr12:8955846-8955847	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187195548	chr12:8955860-8955861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543981688	chr12:8955889-8955890	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75114132	chr12:8955895-8955896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76803584	chr12:8955911-8955912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369610015	chr12:8955918-8955919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192026140	chr12:8955998-8955999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547916888	chr12:8956018-8956019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377007787	chr12:8956061-8956062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182900614	chr12:8956090-8956091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117920672	chr12:8956168-8956169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143801236	chr12:8956182-8956183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527582538	chr12:8956192-8956193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143286529	chr12:8956199-8956200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541009366	chr12:8956358-8956359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74061821	chr12:8956361-8956362	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539287251	chr12:8956450-8956451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111506311	chr12:8956461-8956462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187618412	chr12:8956504-8956505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570094392	chr12:8956505-8956506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190245238	chr12:8956510-8956511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151261078	chr12:8956536-8956537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140435889	chr12:8956553-8956554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78636321	chr12:8956578-8956579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182822657	chr12:8956656-8956657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7305990	chr12:8956667-8956668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549913888	chr12:8956674-8956675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535904533	chr12:8956678-8956679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555803775	chr12:8956697-8956698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139753613	chr12:8956709-8956710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11400267	chr12:8956759-8956760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111706142	chr12:8956767-8956768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112862635	chr12:8956779-8956780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192532101	chr12:8956791-8956792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535355453	chr12:8956805-8956806	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2908460	chr12:8956908-8956909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8945200-8958000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:8947600-8961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:8947800-8955600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:8947800-8958200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:8949000-8962600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:8950000-8958200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:8950000-8958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:8955200-8956000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:8955400-8955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:8955600-8955800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:8955600-8956000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:8955800-8956600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:8955800-8958200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:8956000-8956800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:8956000-8957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:8956400-8958200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:8956800-8959800	Active TSS	HUES6 Cell Line	embryonic stem cell

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