Variant report

Variant	nsv975637
Chromosome Location	chr12:86193637-86196843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61928906	chr12:86193719-86193720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141818204	chr12:86193806-86193807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184536686	chr12:86193885-86193886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145800214	chr12:86193897-86193898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145461273	chr12:86193964-86193965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538229683	chr12:86193970-86193971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553849792	chr12:86193996-86193997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148861506	chr12:86194016-86194017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143503959	chr12:86194021-86194022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542450730	chr12:86194075-86194076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555993968	chr12:86194080-86194081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61928907	chr12:86194084-86194085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147995535	chr12:86194109-86194110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547704103	chr12:86194236-86194237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11117039	chr12:86194249-86194250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563146702	chr12:86194289-86194290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559389879	chr12:86194321-86194322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142586936	chr12:86194328-86194329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111936249	chr12:86194339-86194340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138777879	chr12:86194368-86194369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12817020	chr12:86194396-86194397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370040952	chr12:86194429-86194430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374487926	chr12:86194434-86194435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61928908	chr12:86194444-86194445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549198544	chr12:86194456-86194457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190269434	chr12:86194522-86194523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568512969	chr12:86194535-86194536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141827177	chr12:86194575-86194576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539653157	chr12:86194758-86194759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571175930	chr12:86194818-86194819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549769712	chr12:86194838-86194839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538639363	chr12:86194886-86194887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150837060	chr12:86194891-86194892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73176553	chr12:86194938-86194939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535957458	chr12:86194941-86194942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556024495	chr12:86194985-86194986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193280411	chr12:86194995-86194996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574305381	chr12:86195015-86195016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538405941	chr12:86195047-86195048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185099966	chr12:86195058-86195059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573281931	chr12:86195075-86195076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190393733	chr12:86195079-86195080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560274993	chr12:86195107-86195108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139248237	chr12:86195138-86195139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542692739	chr12:86195151-86195152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3207496	chr12:86195154-86195155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145080613	chr12:86195168-86195169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370667580	chr12:86195169-86195170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149551757	chr12:86195312-86195313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181177668	chr12:86195317-86195318	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86190000-86196800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:86190200-86196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:86190600-86196200	Weak transcription	Hela-S3	cervix
4	chr12:86191400-86207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:86194200-86214000	Weak transcription	HMEC	breast
6	chr12:86196000-86197200	Active TSS	NHEK	skin
7	chr12:86196000-86197400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:86196000-86197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:86196200-86196400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:86196200-86197200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:86196200-86197600	Enhancers	Hela-S3	cervix
12	chr12:86196400-86196600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:86196400-86196800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:86196400-86198800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:86196600-86198400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:86196600-86199200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:86196800-86197200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:86196800-86197600	Enhancers	HUVEC	blood vessel
19	chr12:86196800-86198400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:86196800-86198800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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