Variant report

Variant	nsv976730
Chromosome Location	chr12:26082055-26086201
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	chr12:26083077..26084676-chr12:26111179..26112864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	chromatin interactions
ENSG00000246695	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191669247	chr12:26082064-26082065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34378553	chr12:26082079-26082080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536237258	chr12:26082098-26082099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74941990	chr12:26082124-26082125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569992419	chr12:26082163-26082164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182186013	chr12:26082176-26082177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186344845	chr12:26082247-26082248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577325888	chr12:26082278-26082279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145346726	chr12:26082362-26082363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190947156	chr12:26082408-26082409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572109119	chr12:26082455-26082456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113556467	chr12:26082491-26082492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560842479	chr12:26082508-26082509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576424100	chr12:26082514-26082515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs207472759	chr12:26082519-26082520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543663158	chr12:26082523-26082524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564937046	chr12:26082529-26082530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145221632	chr12:26082532-26082533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547616789	chr12:26082542-26082543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12423046	chr12:26082580-26082581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530065265	chr12:26082604-26082605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553963156	chr12:26082614-26082615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148792305	chr12:26082633-26082634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569680918	chr12:26082697-26082698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537353542	chr12:26082750-26082751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79783578	chr12:26082760-26082761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1691895	chr12:26082762-26082763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1797972	chr12:26082801-26082802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114023278	chr12:26082802-26082803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151292478	chr12:26082804-26082805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76875509	chr12:26082818-26082819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577594250	chr12:26082830-26082831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1691890	chr12:26082858-26082859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536321534	chr12:26082863-26082864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554616507	chr12:26082875-26082876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1691887	chr12:26082888-26082889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376378916	chr12:26082916-26082917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2643929	chr12:26082921-26082922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371446917	chr12:26082922-26082923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78159630	chr12:26082944-26082945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74793574	chr12:26082988-26082989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543400937	chr12:26083026-26083027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1797973	chr12:26083038-26083039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570319934	chr12:26083062-26083063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533722087	chr12:26083065-26083066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565177671	chr12:26083087-26083088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115384077	chr12:26083109-26083110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201187645	chr12:26083120-26083121	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79819871	chr12:26083187-26083188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182415551	chr12:26083207-26083208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26079600-26082800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:26081400-26082800	Enhancers	NHDF-Ad	bronchial
3	chr12:26081600-26082400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:26081600-26082600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:26081600-26082800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:26081600-26082800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:26081600-26082800	Enhancers	Hela-S3	cervix
8	chr12:26081600-26082800	Enhancers	Osteobl	bone
9	chr12:26081600-26083000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:26081800-26082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:26081800-26082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:26081800-26082600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:26081800-26082600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:26081800-26082600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:26081800-26082600	Enhancers	Brain Hippocampus Middle	brain
16	chr12:26082000-26082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:26082200-26082600	Enhancers	Brain Substantia Nigra	brain
18	chr12:26082400-26082800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:26082600-26082800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:26082800-26086200	Weak transcription	NHDF-Ad	bronchial
21	chr12:26082800-26086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
23	chr12:26086200-26086800	Enhancers	NHDF-Ad	bronchial

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