Variant report

Variant	nsv800
Chromosome Location	chr12:86572379-86617887
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	chr12:86365669..86366250-chr12:86579981..86580554,2	MCF-7	breast:

Extended variants
information (count: 437 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576148381	chr12:86573817-86573818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545349169	chr12:86573824-86573825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563750284	chr12:86573825-86573826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532633819	chr12:86573830-86573831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541383049	chr12:86573854-86573855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560023337	chr12:86573859-86573860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530221762	chr12:86573860-86573861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554197670	chr12:86573900-86573901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548810108	chr12:86573903-86573904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570116091	chr12:86573917-86573918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187937302	chr12:86573936-86573937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552569108	chr12:86573949-86573950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570879357	chr12:86574021-86574022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs58420856	chr12:86574026-86574027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs59623111	chr12:86574081-86574082	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568385889	chr12:86574125-86574126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184455446	chr12:86574153-86574154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557123518	chr12:86574192-86574193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574956461	chr12:86574237-86574238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150901888	chr12:86574239-86574240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557303818	chr12:86574244-86574245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572484264	chr12:86574254-86574255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540259097	chr12:86574331-86574332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190153916	chr12:86574333-86574334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530425910	chr12:86574338-86574339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs839101	chr12:86574359-86574360	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563886527	chr12:86574382-86574383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530995617	chr12:86574383-86574384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552680605	chr12:86574390-86574391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149245722	chr12:86574396-86574397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200596384	chr12:86584607-86584608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540686137	chr12:86584614-86584615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116277848	chr12:86584629-86584630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374308519	chr12:86584690-86584691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57624840	chr12:86584705-86584706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577347828	chr12:86584715-86584716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544952380	chr12:86584764-86584765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544612005	chr12:86584777-86584778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55832610	chr12:86584831-86584832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572259923	chr12:86584832-86584833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542892327	chr12:86584839-86584840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200423782	chr12:86584862-86584863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527269015	chr12:86584866-86584867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60099734	chr12:86584895-86584896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61080943	chr12:86584903-86584904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56357601	chr12:86584905-86584906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184263162	chr12:86584911-86584912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376323043	chr12:86584950-86584951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185295432	chr12:86585004-86585005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549769447	chr12:86585020-86585021	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86573800-86574400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86584600-86585600	Enhancers	Fetal Brain Male	brain
3	chr12:86586400-86586800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:86586800-86587200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:86587200-86588000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:86587400-86588400	Enhancers	HUVEC	blood vessel
7	chr12:86587600-86588000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:86587600-86588000	Enhancers	A549	lung
9	chr12:86587600-86588200	Enhancers	NHEK	skin
10	chr12:86587600-86588800	Enhancers	Hela-S3	cervix
11	chr12:86588000-86588400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:86588000-86588400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:86588400-86588600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:86588600-86589000	Enhancers	Brain Germinal Matrix	brain
15	chr12:86594200-86594800	Enhancers	Dnd41	blood
16	chr12:86603400-86603600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:86603800-86604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:86604600-86605000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:86609400-86609800	Enhancers	Aorta	Aorta
20	chr12:86611200-86613600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:86614000-86625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:86615800-86616200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:86616200-86618400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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