Variant report

Variant	esv2616568
Chromosome Location	chr12:104292875-104294553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104291534..104293159-chr12:104297953..104300433,2	K562	blood:
2	chr12:104293129..104295287-chr12:104295560..104297769,2	K562	blood:
3	chr12:104294085..104296480-chr12:104308577..104310101,2	K562	blood:
4	chr12:104291172..104293021-chr12:104296690..104298441,2	K562	blood:
5	chr12:104290265..104292950-chr12:104322949..104324909,2	K562	blood:
6	chr12:104290617..104292950-chr12:104323409..104325905,2	K562	blood:

Variant related genes	Relation type
ENSG00000265072	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000166598	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140006747	chr12:104292890-104292891	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs141978724	chr12:104292894-104292895	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570892076	chr12:104292953-104292954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4964322	chr12:104292960-104292961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4964323	chr12:104293004-104293005	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577907384	chr12:104293005-104293006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187040920	chr12:104293006-104293007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146317651	chr12:104293112-104293113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553205339	chr12:104293137-104293138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2583233	chr12:104293220-104293221	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376777037	chr12:104293284-104293285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10778302	chr12:104293312-104293313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138581786	chr12:104293395-104293396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200415046	chr12:104293408-104293409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201680103	chr12:104293409-104293410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199768023	chr12:104293430-104293431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113175760	chr12:104293714-104293715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112818489	chr12:104293723-104293724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144581522	chr12:104293761-104293762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200705892	chr12:104293762-104293763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115707980	chr12:104293804-104293805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537389404	chr12:104293833-104293834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557172307	chr12:104293851-104293852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573764684	chr12:104293864-104293865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542773135	chr12:104293967-104293968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559206078	chr12:104293969-104293970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7970923	chr12:104294002-104294003	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7971105	chr12:104294020-104294021	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191630450	chr12:104294029-104294030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7957862	chr12:104294030-104294031	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550996035	chr12:104294046-104294047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561591022	chr12:104294122-104294123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530250461	chr12:104294130-104294131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11111828	chr12:104294140-104294141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375117116	chr12:104294141-104294142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566428582	chr12:104294174-104294175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148536921	chr12:104294175-104294176	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs199927559	chr12:104294183-104294184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142918878	chr12:104294202-104294203	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369632516	chr12:104294208-104294209	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7137277	chr12:104294231-104294232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569276381	chr12:104294261-104294262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7971563	chr12:104294275-104294276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35193500	chr12:104294341-104294342	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371201696	chr12:104294353-104294354	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573852496	chr12:104294372-104294373	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536134947	chr12:104294389-104294390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10778303	chr12:104294395-104294396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531592744	chr12:104294412-104294413	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs114211036	chr12:104294426-104294427	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104284600-104294200	Weak transcription	Thymus	Thymus
3	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:104292200-104294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104293200-104293600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:104293200-104294800	Enhancers	Primary T cells from cord blood	blood
7	chr12:104293600-104294000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:104293800-104295400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:104294000-104295000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:104294200-104294400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:104294200-104295200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:104294200-104295200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:104294200-104295200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:104294200-104295200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:104294200-104295200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:104294200-104295200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:104294200-104295400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr12:104294200-104298600	Enhancers	Fetal Thymus	thymus
19	chr12:104294200-104299000	Enhancers	Thymus	Thymus
20	chr12:104294400-104294600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:104294400-104295000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:104294400-104296000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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