Variant report

Variant	nsv1052096
Chromosome Location	chr12:58716449-58733347
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	chr12:58706895..58709674-chr12:58716044..58718187,2	MCF-7	breast:

Extended variants
information (count: 476 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562672848	chr12:58716462-58716463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189824298	chr12:58716479-58716480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113717402	chr12:58716483-58716484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369586051	chr12:58716484-58716485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79393512	chr12:58716487-58716488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200046853	chr12:58716488-58716489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73346135	chr12:58716504-58716505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113600388	chr12:58716585-58716586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3913016	chr12:58716588-58716589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs185635994	chr12:58716589-58716590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535698833	chr12:58716606-58716607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557619459	chr12:58716653-58716654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575893951	chr12:58716696-58716697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540140020	chr12:58716723-58716724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558143591	chr12:58716766-58716767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573289857	chr12:58716808-58716809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540700306	chr12:58716821-58716822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146130852	chr12:58716847-58716848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370061241	chr12:58716856-58716857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140121732	chr12:58716878-58716879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544117706	chr12:58716888-58716889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74096856	chr12:58716904-58716905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150843400	chr12:58716920-58716921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544914486	chr12:58716924-58716925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61424185	chr12:58716943-58716944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527311957	chr12:58717041-58717042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79626335	chr12:58717051-58717052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540683707	chr12:58717058-58717059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76747818	chr12:58717061-58717062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529481478	chr12:58717093-58717094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191527688	chr12:58717116-58717117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10783886	chr12:58717129-58717130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183073267	chr12:58717130-58717131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11172540	chr12:58717165-58717166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369675813	chr12:58717182-58717183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566846882	chr12:58717215-58717216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534218041	chr12:58717224-58717225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188507687	chr12:58717231-58717232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555818941	chr12:58717238-58717239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113618524	chr12:58717256-58717257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574098919	chr12:58717264-58717265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76582393	chr12:58717289-58717290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12830609	chr12:58717302-58717303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577433744	chr12:58717354-58717355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544876036	chr12:58717372-58717373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115472825	chr12:58717374-58717375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191601774	chr12:58717404-58717405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542300573	chr12:58717432-58717433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1148533	chr12:58717438-58717439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs531267190	chr12:58717443-58717444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58709200-58721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58717400-58717800	Enhancers	NH-A	brain
3	chr12:58717800-58719200	Weak transcription	NH-A	brain
4	chr12:58718800-58720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:58718800-58720200	Enhancers	Fetal Lung	lung
6	chr12:58719200-58719400	Enhancers	NH-A	brain
7	chr12:58719200-58719600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:58719200-58720000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:58719400-58719800	Enhancers	Fetal Stomach	stomach
10	chr12:58719600-58720200	Enhancers	Adipose Nuclei	Adipose
11	chr12:58719800-58720200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:58720200-58724000	Weak transcription	Adipose Nuclei	Adipose
13	chr12:58720600-58721200	Enhancers	Fetal Intestine Large	intestine
14	chr12:58720600-58721400	Enhancers	Fetal Intestine Small	intestine
15	chr12:58724000-58724400	Active TSS	Adipose Nuclei	Adipose
16	chr12:58730400-58730600	Enhancers	A549	lung
17	chr12:58730600-58731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:58730600-58731200	Enhancers	Fetal Kidney	kidney
19	chr12:58730600-58731200	Enhancers	NHLF	lung
20	chr12:58730600-58731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:58730600-58731400	Flanking Active TSS	A549	lung
22	chr12:58730600-58731400	Enhancers	Hela-S3	cervix
23	chr12:58730600-58731400	Enhancers	HepG2	liver
24	chr12:58730600-58731400	Enhancers	HUVEC	blood vessel
25	chr12:58730600-58731400	Enhancers	NH-A	brain
26	chr12:58730600-58731400	Enhancers	NHDF-Ad	bronchial
27	chr12:58730600-58731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:58730600-58731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:58730600-58731800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:58730600-58731800	Enhancers	Fetal Heart	heart
31	chr12:58730600-58732000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:58730600-58732200	Enhancers	Fetal Intestine Large	intestine
33	chr12:58730800-58731200	Enhancers	Adipose Nuclei	Adipose
34	chr12:58730800-58731200	Enhancers	NHEK	skin
35	chr12:58730800-58731400	Enhancers	HSMMtube	muscle
36	chr12:58730800-58731400	Enhancers	Osteobl	bone
37	chr12:58731000-58731400	Enhancers	Fetal Lung	lung
38	chr12:58731000-58731400	Enhancers	HSMM	muscle
39	chr12:58731000-58732600	Enhancers	Fetal Intestine Small	intestine
40	chr12:58731200-58731600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:58731200-58735600	Weak transcription	Fetal Kidney	kidney
42	chr12:58731200-58735600	Weak transcription	NHLF	lung
43	chr12:58731200-58736200	Weak transcription	Adipose Nuclei	Adipose
44	chr12:58731400-58734600	Weak transcription	HUVEC	blood vessel
45	chr12:58731400-58735200	Weak transcription	Fetal Lung	lung
46	chr12:58731400-58735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:58731400-58735600	Weak transcription	NH-A	brain
48	chr12:58731400-58735600	Weak transcription	NHDF-Ad	bronchial
49	chr12:58731400-58736400	Weak transcription	HSMMtube	muscle
50	chr12:58731600-58735600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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