Variant report

Variant	nsv802
Chromosome Location	chr12:86683758-86723684
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	chr12:86723150..86725256-chr12:86785265..86787177,2	MCF-7	breast:

Extended variants
information (count: 624 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563529116	chr12:86683806-86683807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34809462	chr12:86683830-86683831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79855820	chr12:86683842-86683843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78982089	chr12:86683843-86683844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12304981	chr12:86683847-86683848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577013070	chr12:86683848-86683849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569950049	chr12:86683863-86683864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11103912	chr12:86683879-86683880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374253332	chr12:86683882-86683883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150166746	chr12:86683888-86683889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184395115	chr12:86683915-86683916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374501422	chr12:86683930-86683931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534529391	chr12:86683945-86683946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111234738	chr12:86683974-86683975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575166816	chr12:86684014-86684015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138620606	chr12:86684103-86684104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535412760	chr12:86684104-86684105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556714439	chr12:86684127-86684128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2406118	chr12:86684142-86684143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs2406117	chr12:86684160-86684161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs80274265	chr12:86684187-86684188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143012601	chr12:86684188-86684189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199572225	chr12:86684250-86684251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541303192	chr12:86684276-86684277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544612775	chr12:86684284-86684285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559793503	chr12:86684289-86684290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565119524	chr12:86684375-86684376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147027524	chr12:86684394-86684395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548678217	chr12:86684408-86684409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188833123	chr12:86684422-86684423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563645869	chr12:86684460-86684461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200724775	chr12:86684491-86684492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147119867	chr12:86684492-86684493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530932150	chr12:86684566-86684567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73398184	chr12:86684576-86684577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs55956857	chr12:86684589-86684590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562964915	chr12:86684618-86684619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76657966	chr12:86684619-86684620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546507981	chr12:86684622-86684623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55733909	chr12:86684624-86684625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs56137794	chr12:86684664-86684665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556657768	chr12:86684691-86684692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548515744	chr12:86684731-86684732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74339515	chr12:86684755-86684756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144359137	chr12:86684765-86684766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577513532	chr12:86684768-86684769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148769512	chr12:86684770-86684771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191696812	chr12:86684785-86684786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574999209	chr12:86684799-86684800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568947209	chr12:86684811-86684812	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86680200-86684600	Weak transcription	Fetal Heart	heart
2	chr12:86684600-86685200	Enhancers	Fetal Heart	heart
3	chr12:86685400-86685600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:86685600-86686400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:86686400-86687000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:86687000-86687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:86687600-86688400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:86688400-86689200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:86690000-86690600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:86690800-86692600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:86692600-86693800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:86693800-86694600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:86694800-86695400	Enhancers	Fetal Lung	lung
15	chr12:86720800-86721600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:86721600-86724600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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