Variant report

Variant	nsv826470
Chromosome Location	chr12:87710443-87715669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11104427	chr12:87710445-87710446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528566955	chr12:87710473-87710474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397787024	chr12:87710479-87710480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565924916	chr12:87710504-87710505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576481237	chr12:87710539-87710540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372183976	chr12:87710540-87710541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113092361	chr12:87710617-87710618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77882442	chr12:87710628-87710629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527915670	chr12:87710647-87710648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547564207	chr12:87710661-87710662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561270403	chr12:87710666-87710667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61951537	chr12:87710687-87710688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190476656	chr12:87710688-87710689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142317489	chr12:87710701-87710702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112879453	chr12:87710713-87710714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113397431	chr12:87710768-87710769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76869009	chr12:87710872-87710873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10219727	chr12:87710907-87710908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553973103	chr12:87710908-87710909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537518823	chr12:87710915-87710916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10219672	chr12:87710928-87710929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536501097	chr12:87710938-87710939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79745553	chr12:87710961-87710962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188977644	chr12:87711076-87711077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113977151	chr12:87711077-87711078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200677307	chr12:87711096-87711097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576402772	chr12:87711116-87711117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547188017	chr12:87711120-87711121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545372707	chr12:87711150-87711151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10219675	chr12:87711171-87711172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547986920	chr12:87711193-87711194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572475789	chr12:87711199-87711200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370632792	chr12:87711234-87711235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535018067	chr12:87711295-87711296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181737376	chr12:87711419-87711420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561104783	chr12:87711432-87711433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58062174	chr12:87711448-87711449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375947727	chr12:87711475-87711476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543745595	chr12:87711487-87711488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563991861	chr12:87711511-87711512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531234566	chr12:87711521-87711522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113291406	chr12:87711552-87711553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571267896	chr12:87711556-87711557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372550933	chr12:87711581-87711582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186082504	chr12:87711587-87711588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547613339	chr12:87711604-87711605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77448280	chr12:87711605-87711606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35930371	chr12:87711656-87711657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536443693	chr12:87711694-87711695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112205121	chr12:87711706-87711707	Weak transcription 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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87705800-87711000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:87708800-87712400	Weak transcription	Aorta	Aorta
3	chr12:87709000-87711800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:87711000-87711200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:87711000-87711200	Enhancers	NH-A	brain
6	chr12:87711000-87712400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:87711000-87712400	Enhancers	Osteobl	bone
8	chr12:87711000-87712600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:87711000-87712800	Enhancers	HUVEC	blood vessel
10	chr12:87711200-87712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:87711200-87712000	Weak transcription	NH-A	brain
12	chr12:87711800-87712200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:87712000-87712200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:87712000-87712200	Enhancers	NH-A	brain
15	chr12:87712000-87712200	Enhancers	NHLF	lung
16	chr12:87712000-87712400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:87712000-87712600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:87712200-87716200	Weak transcription	NH-A	brain
19	chr12:87712400-87712800	Enhancers	Aorta	Aorta
20	chr12:87712400-87714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:87712400-87716400	Weak transcription	Osteobl	bone
22	chr12:87712400-87716600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:87712600-87714000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:87712600-87718000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:87712800-87714000	Weak transcription	HUVEC	blood vessel
26	chr12:87712800-87716000	Weak transcription	Aorta	Aorta
27	chr12:87714000-87714800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:87714000-87714800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:87714000-87718400	Enhancers	HUVEC	blood vessel
30	chr12:87714400-87714800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:87714400-87714800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:87714800-87716200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:87714800-87716400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:87714800-87716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:87714800-87716800	Weak transcription	Muscle Satellite Cultured Cells	--

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