Variant report

Variant	esv3451478
Chromosome Location	chr12:7588985-7590933
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	chr12:7564056..7565772-chr12:7588847..7590546,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556899069	chr12:7589012-7589013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368724311	chr12:7589092-7589093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75885116	chr12:7589104-7589105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573702475	chr12:7589140-7589141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372404117	chr12:7589157-7589158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77295020	chr12:7589168-7589169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35140878	chr12:7589203-7589204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138181066	chr12:7589313-7589314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373714846	chr12:7589315-7589316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367873116	chr12:7589526-7589527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186077579	chr12:7589535-7589536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111944262	chr12:7589605-7589606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148972766	chr12:7589608-7589609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548266661	chr12:7589611-7589612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201003305	chr12:7589728-7589729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201889184	chr12:7589732-7589733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373047093	chr12:7589733-7589734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200054327	chr12:7589740-7589741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181922535	chr12:7589754-7589755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11053867	chr12:7589756-7589757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10635331	chr12:7589762-7589763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35997898	chr12:7589763-7589764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201382266	chr12:7589765-7589766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377160018	chr12:7589789-7589790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369175524	chr12:7589794-7589795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372160033	chr12:7589799-7589800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374853098	chr12:7589800-7589801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369214372	chr12:7589801-7589802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373324241	chr12:7589802-7589803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569109418	chr12:7589804-7589805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369382450	chr12:7589811-7589812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185759447	chr12:7589813-7589814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373121538	chr12:7589816-7589817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377468948	chr12:7589824-7589825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376306912	chr12:7589826-7589827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370843200	chr12:7589829-7589830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375065508	chr12:7589830-7589831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72110015	chr12:7589831-7589832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59255395	chr12:7589832-7589833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57252539	chr12:7589834-7589835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373125394	chr12:7589835-7589836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60407455	chr12:7589854-7589855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59173245	chr12:7589862-7589863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370386455	chr12:7589864-7589865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373413301	chr12:7589880-7589881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201644930	chr12:7589912-7589913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201925809	chr12:7589915-7589916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59562336	chr12:7589917-7589918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200382222	chr12:7589947-7589948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565983967	chr12:7589951-7589952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7527600-7591200	Weak transcription	Placenta	Placenta
2	chr12:7582600-7592200	Weak transcription	Adipose Nuclei	Adipose
3	chr12:7586000-7591400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:7586400-7589000	Enhancers	HUVEC	blood vessel
5	chr12:7586400-7590600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:7586600-7592400	Weak transcription	HMEC	breast
7	chr12:7587400-7592200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:7589000-7592200	Weak transcription	HUVEC	blood vessel
9	chr12:7590000-7593400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:7590200-7593200	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links