Variant report

Variant	esv2587098
Chromosome Location	chr12:8624940-8626654
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	chr12:8625872..8627990-chr12:8629712..8631446,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142553353	chr12:8624943-8624944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537910650	chr12:8624949-8624950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554188720	chr12:8625081-8625082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577259990	chr12:8625082-8625083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546217891	chr12:8625133-8625134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376546666	chr12:8625204-8625205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370123765	chr12:8625247-8625248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562853426	chr12:8625294-8625295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202070610	chr12:8625593-8625594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532071854	chr12:8625869-8625870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12321576	chr12:8625870-8625871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200064030	chr12:8625887-8625888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201215747	chr12:8625888-8625889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201702280	chr12:8625889-8625890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376226774	chr12:8625993-8625994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72621031	chr12:8626008-8626009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114070724	chr12:8626040-8626041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114623774	chr12:8626080-8626081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115368803	chr12:8626091-8626092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146744618	chr12:8626098-8626099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373625839	chr12:8626137-8626138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116272019	chr12:8626184-8626185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115383256	chr12:8626227-8626228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140301417	chr12:8626249-8626250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367719413	chr12:8626276-8626277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200365843	chr12:8626318-8626319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4334073	chr12:8626362-8626363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs181967141	chr12:8626377-8626378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372897340	chr12:8626442-8626443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186504433	chr12:8626464-8626465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547672231	chr12:8626510-8626511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190450879	chr12:8626538-8626539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114433130	chr12:8626594-8626595	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
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8624600-8625200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:8624600-8625200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:8624800-8625000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:8624800-8625200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:8624800-8625200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:8624800-8625200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:8625000-8625600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:8625000-8627800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:8625200-8625600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:8625200-8627600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:8625200-8627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:8625200-8628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:8625200-8628000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:8625200-8628000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:8626200-8627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:8626600-8628000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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