Variant report

Variant	esv3428244
Chromosome Location	chr12:85480533-85503517
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	chr12:85500330..85501960-chr12:85504219..85505982,2	K562	blood:
2	chr12:85496315..85499030-chr12:85506456..85509353,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545302701	chr12:85483605-85483606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189200539	chr12:85483606-85483607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569002091	chr12:85483652-85483653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143892377	chr12:85483711-85483712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181957969	chr12:85483712-85483713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560953562	chr12:85483724-85483725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531652130	chr12:85483726-85483727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564586276	chr12:85483767-85483768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146433991	chr12:85483778-85483779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185692337	chr12:85483803-85483804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs359985	chr12:85483823-85483824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537424284	chr12:85483873-85483874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191631448	chr12:85483914-85483915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181260881	chr12:85483968-85483969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186520595	chr12:85484012-85484013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115319423	chr12:85484047-85484048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536682927	chr12:85484086-85484087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115896536	chr12:85484138-85484139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117137025	chr12:85484139-85484140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538816171	chr12:85484169-85484170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537691566	chr12:85486010-85486011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188178744	chr12:85486012-85486013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377631906	chr12:85486050-85486051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571184352	chr12:85486080-85486081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74111264	chr12:85486104-85486105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12297183	chr12:85486109-85486110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574936993	chr12:85486117-85486118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4761115	chr12:85486119-85486120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558798063	chr12:85486126-85486127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370115482	chr12:85486166-85486167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181763182	chr12:85486181-85486182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76698588	chr12:85486211-85486212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546010032	chr12:85486244-85486245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79973953	chr12:85486306-85486307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184833464	chr12:85486326-85486327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572818344	chr12:85486331-85486332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190218324	chr12:85486332-85486333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561351249	chr12:85486352-85486353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528903430	chr12:85486367-85486368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537769496	chr12:85486368-85486369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78243425	chr12:85486422-85486423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181825485	chr12:85486426-85486427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530984060	chr12:85486431-85486432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186438583	chr12:85486501-85486502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574299455	chr12:85486509-85486510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552753037	chr12:85486541-85486542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571115144	chr12:85486568-85486569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143018718	chr12:85486577-85486578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75332993	chr12:85486579-85486580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568452452	chr12:85486580-85486581	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85483600-85484000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:85483600-85484000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:85483600-85484000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:85483600-85484000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:85483600-85484000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:85483800-85484200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:85483800-85484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:85486000-85487400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:85486200-85487800	Enhancers	HMEC	breast
10	chr12:85486400-85487400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:85486600-85486800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:85486600-85487200	Enhancers	NHEK	skin
13	chr12:85487000-85487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:85490600-85491200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links