Variant report

Variant	esv3345768
Chromosome Location	chr12:9292598-9297390
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	chr12:9289234..9291527-chr12:9295649..9297561,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7968546	chr12:9292598-9292599	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568950890	chr12:9292671-9292672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111937849	chr12:9292764-9292765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139194532	chr12:9292840-9292841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199730308	chr12:9292860-9292861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191790103	chr12:9292867-9292868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79155291	chr12:9292868-9292869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs226365	chr12:9292869-9292870	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537873899	chr12:9292885-9292886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149933699	chr12:9292931-9292932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369652283	chr12:9292965-9292966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528213526	chr12:9292989-9292990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541976704	chr12:9292998-9292999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376088628	chr12:9293050-9293051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80350460	chr12:9293063-9293064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182420929	chr12:9293117-9293118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140089572	chr12:9293154-9293155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11519086	chr12:9293235-9293236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34283148	chr12:9293308-9293309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373091142	chr12:9293332-9293333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530566523	chr12:9293374-9293375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185719793	chr12:9293427-9293428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4367994	chr12:9293474-9293475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190620261	chr12:9293483-9293484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576937416	chr12:9293509-9293510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570731611	chr12:9293567-9293568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182483275	chr12:9293575-9293576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73246344	chr12:9293578-9293579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112684710	chr12:9293593-9293594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533042692	chr12:9293614-9293615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191022901	chr12:9293655-9293656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539569489	chr12:9293705-9293706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182365365	chr12:9293770-9293771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556269012	chr12:9293784-9293785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61916035	chr12:9293798-9293799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375327201	chr12:9293846-9293847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541865573	chr12:9293885-9293886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370515784	chr12:9293889-9293890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562066556	chr12:9293976-9293977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113803583	chr12:9294063-9294064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187907885	chr12:9294096-9294097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146811863	chr12:9294142-9294143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193034565	chr12:9294143-9294144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113498682	chr12:9294145-9294146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61916036	chr12:9294192-9294193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185000248	chr12:9294202-9294203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572657515	chr12:9294211-9294212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187445885	chr12:9294229-9294230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140543221	chr12:9294266-9294267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34262551	chr12:9294329-9294330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:9280800-9310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:9291200-9296400	Enhancers	Hela-S3	cervix
4	chr12:9292200-9293200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:9293200-9303200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9296000-9297000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:9296200-9296800	Enhancers	Psoas Muscle	Psoas
8	chr12:9296200-9297000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr12:9296400-9297000	ZNF genes & repeats	HSMMtube	muscle
10	chr12:9296400-9298000	Flanking Active TSS	Hela-S3	cervix
11	chr12:9296600-9297000	Enhancers	Liver	Liver
12	chr12:9296800-9304200	Weak transcription	Psoas Muscle	Psoas
13	chr12:9297000-9297400	Weak transcription	HSMMtube	muscle
14	chr12:9297000-9298000	Weak transcription	Liver	Liver
15	chr12:9297000-9299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:9297000-9316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links