Variant report

Variant	nsv983445
Chromosome Location	chr12:86679991-86691237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 413 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:413 , 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	rs549080025	chr12:86679993-86679994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146680957	chr12:86680048-86680049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537853960	chr12:86680055-86680056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577723208	chr12:86680087-86680088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140345142	chr12:86680134-86680135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540034314	chr12:86680181-86680182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75659506	chr12:86680188-86680189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78148295	chr12:86680215-86680216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373808974	chr12:86680228-86680229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182161508	chr12:86680263-86680264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367833125	chr12:86680264-86680265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78765113	chr12:86680322-86680323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540752530	chr12:86680355-86680356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7135733	chr12:86680386-86680387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200817124	chr12:86680388-86680389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77551914	chr12:86680393-86680394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544635882	chr12:86680397-86680398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7135741	chr12:86680406-86680407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145413260	chr12:86680424-86680425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544790127	chr12:86680437-86680438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559884071	chr12:86680456-86680457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527505179	chr12:86680491-86680492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530676846	chr12:86680538-86680539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567366871	chr12:86680541-86680542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138097878	chr12:86680596-86680597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549791689	chr12:86680630-86680631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567396950	chr12:86680665-86680666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36014209	chr12:86680699-86680700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372148097	chr12:86680711-86680712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2406121	chr12:86680718-86680719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs55649116	chr12:86680745-86680746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149531530	chr12:86680791-86680792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143256906	chr12:86680890-86680891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377522231	chr12:86680926-86680927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555570528	chr12:86680936-86680937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539059969	chr12:86680953-86680954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574124837	chr12:86680991-86680992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368912466	chr12:86681011-86681012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544259117	chr12:86681016-86681017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556174707	chr12:86681022-86681023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78098404	chr12:86681025-86681026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569224141	chr12:86681037-86681038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536588559	chr12:86681061-86681062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544876413	chr12:86681097-86681098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555219926	chr12:86681152-86681153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148297054	chr12:86681154-86681155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372311340	chr12:86681168-86681169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56064200	chr12:86681169-86681170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140733789	chr12:86681170-86681171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540392544	chr12:86681187-86681188	Weak transcription	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86676600-86680200	Enhancers	Fetal Heart	heart
2	chr12:86680200-86684600	Weak transcription	Fetal Heart	heart
3	chr12:86684600-86685200	Enhancers	Fetal Heart	heart
4	chr12:86685400-86685600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:86685600-86686400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:86686400-86687000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:86687000-86687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:86687600-86688400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:86688400-86689200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:86690000-86690600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:86690800-86692600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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