Variant report

Variant	nsv469499
Chromosome Location	chr12:84441408-84571480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
2	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
3	chr12:84449070..84451630-chr12:84460608..84463316,2	K562	blood:
4	chr12:84449070..84451630-chr12:84460608..84463316,2	K562	blood:
5	chr12:84463708..84466691-chr12:84469357..84472194,2	K562	blood:
6	chr12:84463708..84466691-chr12:84469357..84472194,2	K562	blood:

Extended variants
information (count: 2469 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2469 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571946993	chr12:84441627-84441628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538661918	chr12:84441667-84441668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547067974	chr12:84441668-84441669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565814900	chr12:84441672-84441673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34228663	chr12:84441721-84441722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149058432	chr12:84441750-84441751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142181662	chr12:84441755-84441756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151191305	chr12:84441781-84441782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73353786	chr12:84441810-84441811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188923191	chr12:84441854-84441855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140401448	chr12:84441970-84441971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193072844	chr12:84441985-84441986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546827061	chr12:84452019-84452020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373560364	chr12:84452026-84452027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12309527	chr12:84452099-84452100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375603030	chr12:84452115-84452116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369659464	chr12:84452126-84452127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192455173	chr12:84452191-84452192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201540961	chr12:84452198-84452199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149265275	chr12:84452199-84452200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147387131	chr12:84452224-84452225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142226897	chr12:84452283-84452284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557466238	chr12:84452313-84452314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs118189568	chr12:84452329-84452330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533856366	chr12:84452337-84452338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556279515	chr12:84452339-84452340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34835622	chr12:84452340-84452341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397822716	chr12:84452342-84452343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185097167	chr12:84452347-84452348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560918576	chr12:84462021-84462022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531180329	chr12:84462055-84462056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549481336	chr12:84462105-84462106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183818908	chr12:84462111-84462112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532180787	chr12:84462129-84462130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7308004	chr12:84462140-84462141	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565874045	chr12:84462141-84462142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368056579	chr12:84462169-84462170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376251428	chr12:84462176-84462177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143790771	chr12:84462180-84462181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371519852	chr12:84462184-84462185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369630710	chr12:84462200-84462201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557543350	chr12:84462260-84462261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575888660	chr12:84462296-84462297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188641727	chr12:84462298-84462299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146901957	chr12:84462387-84462388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538207637	chr12:84462412-84462413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556703852	chr12:84462453-84462454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35189496	chr12:84462487-84462488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578109118	chr12:84462507-84462508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539284516	chr12:84462509-84462510	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Neurodevelopmental disorder	22521361	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
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84441600-84442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:84452000-84452400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:84462000-84465600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:84462800-84463400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:84463000-84463200	Enhancers	NHLF	lung
6	chr12:84463000-84465400	Enhancers	NHDF-Ad	bronchial
7	chr12:84463200-84463600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr12:84463200-84464400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:84463200-84464600	Weak transcription	NHLF	lung
10	chr12:84463400-84464400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:84463400-84465000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:84464400-84465600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:84464600-84465800	Enhancers	NHLF	lung
14	chr12:84465000-84469600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:84465600-84467200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:84465600-84473200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:84467000-84468200	Enhancers	Fetal Heart	heart
18	chr12:84467200-84467600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:84467600-84469400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:84468200-84471200	Weak transcription	Fetal Heart	heart
21	chr12:84469400-84473000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:84469600-84471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:84470800-84471200	Enhancers	Fetal Stomach	stomach
24	chr12:84470800-84472200	Enhancers	Fetal Lung	lung
25	chr12:84471000-84473000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:84471200-84472600	Enhancers	Fetal Heart	heart
27	chr12:84471400-84473600	Enhancers	NHDF-Ad	bronchial
28	chr12:84472600-84478800	Weak transcription	Fetal Heart	heart
29	chr12:84473000-84473400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:84473000-84473400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:84473200-84473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:84473400-84473800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:84473400-84474200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:84478800-84479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:84478800-84479400	Enhancers	Fetal Heart	heart
36	chr12:84479400-84495600	Weak transcription	Fetal Heart	heart
37	chr12:84485400-84486400	Enhancers	Esophagus	oesophagus
38	chr12:84485400-84486600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:84485600-84485800	ZNF genes & repeats	Pancreas	Pancrea
40	chr12:84486200-84491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:84491000-84491600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:84496000-84496200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr12:84496000-84498000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr12:84497600-84498400	Enhancers	Hela-S3	cervix
45	chr12:84510400-84510800	Enhancers	A549	lung
46	chr12:84510800-84511000	Active TSS	A549	lung
47	chr12:84511000-84511200	Flanking Active TSS	A549	lung
48	chr12:84511200-84511400	Active TSS	A549	lung
49	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:84522600-84523000	Active TSS	Spleen	Spleen

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