Variant report

Variant	nsv1044513
Chromosome Location	chr12:41091822-41175151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:41095553-41095922	GM12878	blood:	n/a	n/a
2	ATF2	chr12:41095495-41095972	GM12878	blood:	n/a	n/a
3	ATF3	chr12:41112133-41113026	A549	lung:	n/a	n/a
4	ATF3	chr12:41112137-41112996	A549	lung:	n/a	n/a
5	BACH1	chr12:41112882-41112949	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr12:41095607-41095850	GM12878	blood:	n/a	n/a
7	BATF	chr12:41095547-41095917	GM12878	blood:	n/a	n/a
8	BCL11A	chr12:41095533-41095952	GM12878	blood:	n/a	n/a
9	BCL3	chr12:41112128-41113731	A549	lung:	n/a	n/a
10	BCL3	chr12:41112152-41113088	A549	lung:	n/a	n/a
11	BHLHE40	chr12:41145933-41146140	HepG2	liver:	n/a	n/a
12	BHLHE40	chr12:41112220-41112589	A549	lung:	n/a	n/a
13	CEBPB	chr12:41164416-41164736	A549	lung:	n/a	chr12:41164561-41164572 chr12:41164561-41164574 chr12:41164562-41164573
14	CEBPB	chr12:41091457-41091956	A549	lung:	n/a	chr12:41091719-41091732 chr12:41091721-41091732 chr12:41091721-41091732
15	CEBPB	chr12:41098485-41098906	A549	lung:	n/a	n/a
16	CEBPB	chr12:41111882-41113025	A549	lung:	n/a	chr12:41112729-41112741
17	CEBPB	chr12:41164436-41164698	K562	blood:	n/a	chr12:41164561-41164572 chr12:41164561-41164574 chr12:41164562-41164573
18	CEBPB	chr12:41091537-41091915	A549	lung:	n/a	chr12:41091719-41091732 chr12:41091721-41091732 chr12:41091721-41091732
19	CEBPB	chr12:41091532-41091950	A549	lung:	n/a	chr12:41091719-41091732 chr12:41091721-41091732 chr12:41091721-41091732
20	CEBPB	chr12:41136111-41136121	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr12:41098590-41098896	A549	lung:	n/a	n/a
22	CEBPB	chr12:41113250-41113604	A549	lung:	n/a	n/a
23	CEBPB	chr12:41135344-41135544	HepG2	liver:	n/a	chr12:41135458-41135471
24	CEBPB	chr12:41164425-41164735	IMR90	lung:	n/a	chr12:41164561-41164572 chr12:41164561-41164574 chr12:41164562-41164573
25	CEBPB	chr12:41164478-41164649	H1-hESC	embryonic stem cell:	n/a	chr12:41164561-41164572 chr12:41164561-41164574 chr12:41164562-41164573
26	CEBPB	chr12:41164468-41164721	HepG2	liver:	n/a	chr12:41164561-41164572 chr12:41164561-41164574 chr12:41164562-41164573
27	CEBPB	chr12:41112226-41113067	A549	lung:	n/a	chr12:41112729-41112741
28	CEBPB	chr12:41098585-41098918	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr12:41112135-41113710	A549	lung:	n/a	chr12:41112729-41112741
30	CEBPB	chr12:41116651-41116831	HepG2	liver:	n/a	chr12:41116736-41116747 chr12:41116736-41116749 chr12:41116737-41116748
31	CREB1	chr12:41112181-41112729	A549	lung:	n/a	n/a
32	CREB1	chr12:41112121-41112501	A549	lung:	n/a	n/a
33	CTCF	chr12:41139200-41139350	HCT-116	colon:	n/a	n/a
34	CTCF	chr12:41156000-41156150	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr12:41155940-41156090	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr12:41156020-41156103	GM13977	blood:	n/a	n/a
37	CTCF	chr12:41156020-41156170	RPTEC	kidney:	n/a	n/a
38	CTCF	chr12:41139320-41139470	HEK293	kidney:	n/a	n/a
39	CTCF	chr12:41155940-41156090	HEK293	kidney:	n/a	n/a
40	CTCF	chr12:41111400-41111550	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:41156000-41156150	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:41139169-41139498	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:41139185-41139570	A549	lung:	n/a	n/a
44	CTCF	chr12:41171401-41171462	GM12878	blood:	n/a	n/a
45	CTCF	chr12:41139320-41139470	NHEK	skin:	n/a	n/a
46	CTCF	chr12:41155958-41156132	A549	lung:	n/a	n/a
47	CTCF	chr12:41156041-41156116	HepG2	liver:	n/a	n/a
48	CTCF	chr12:41156005-41156121	GM12878	blood:	n/a	n/a
49	CTCF	chr12:41139297-41139519	A549	lung:	n/a	n/a
50	CTCF	chr12:41139260-41139410	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:41106289..41108607-chr12:41111961..41113819,2	K562	blood:
2	chr12:41154089..41156351-chr12:41156663..41158742,2	K562	blood:
3	chr12:41151197..41153698-chr12:41160986..41163331,2	K562	blood:
4	chr12:41162174..41163889-chr12:41167656..41170084,3	K562	blood:
5	chr12:41151197..41153698-chr12:41160986..41163331,2	K562	blood:
6	chr12:41162174..41163889-chr12:41167656..41170084,3	K562	blood:
7	chr12:41154089..41156351-chr12:41156663..41158742,2	K562	blood:
8	chr12:41106289..41108607-chr12:41111961..41113819,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-3	chr12:41122613-41123699	NONHSAT027743

Variant related genes	Relation type
ENSG00000257680	TF binding region
CNTN1	TF binding region

Extended variants
information (count: 2949 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2949 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192159182	chr12:41091876-41091877	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560398743	chr12:41091922-41091923	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6581906	chr12:41091940-41091941	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376331157	chr12:41091963-41091964	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146018473	chr12:41092029-41092030	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs67972617	chr12:41092031-41092032	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71434332	chr12:41092058-41092059	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10879019	chr12:41092064-41092065	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs565705113	chr12:41092118-41092119	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550001852	chr12:41092123-41092124	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143763128	chr12:41092128-41092129	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549883149	chr12:41092162-41092163	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183879937	chr12:41092227-41092228	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535786609	chr12:41092228-41092229	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376160408	chr12:41092262-41092263	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539372865	chr12:41092280-41092281	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370065938	chr12:41092285-41092286	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539641182	chr12:41092289-41092290	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs59257821	chr12:41092301-41092302	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201968485	chr12:41092322-41092323	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368158678	chr12:41092329-41092330	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79883352	chr12:41092333-41092334	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555902732	chr12:41092336-41092337	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551825239	chr12:41092442-41092443	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574335335	chr12:41092474-41092475	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542148515	chr12:41092599-41092600	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563813462	chr12:41092635-41092636	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2405293	chr12:41092666-41092667	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs35413758	chr12:41092757-41092758	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527526614	chr12:41092819-41092820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546007501	chr12:41092864-41092865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139971485	chr12:41092875-41092876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201350253	chr12:41092880-41092881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113378954	chr12:41092881-41092882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71869169	chr12:41092882-41092883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59824101	chr12:41092883-41092884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201855188	chr12:41092884-41092885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199987674	chr12:41092885-41092886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139081845	chr12:41092893-41092894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546278739	chr12:41092898-41092899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143067535	chr12:41092930-41092931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371778898	chr12:41092932-41092933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188560995	chr12:41092936-41092937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561944596	chr12:41092938-41092939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56383533	chr12:41092948-41092949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115209140	chr12:41093001-41093002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547730092	chr12:41093017-41093018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150852194	chr12:41093020-41093021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557659222	chr12:41093067-41093068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551582021	chr12:41093076-41093077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	19144156	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41091200-41092000	Enhancers	Fetal Heart	heart
2	chr12:41091400-41092400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:41091400-41093800	Enhancers	HMEC	breast
4	chr12:41091600-41092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:41091600-41092000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:41091600-41092000	Active TSS	A549	lung
7	chr12:41091600-41092400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:41091600-41092600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:41091800-41092200	Active TSS	NHEK	skin
10	chr12:41092000-41092800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:41092000-41094800	Enhancers	A549	lung
12	chr12:41092200-41092600	Flanking Active TSS	NHEK	skin
13	chr12:41092400-41092600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:41092400-41092800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:41092600-41093800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:41092600-41093800	Enhancers	NHEK	skin
17	chr12:41092600-41097200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:41092800-41093800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:41092800-41121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:41093800-41121000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:41094800-41095600	Weak transcription	A549	lung
22	chr12:41095600-41096200	Enhancers	A549	lung
23	chr12:41096200-41097400	Weak transcription	A549	lung
24	chr12:41097200-41097400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:41097400-41097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:41097400-41099200	Enhancers	A549	lung
27	chr12:41097800-41099000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:41098600-41099200	Enhancers	Brain Angular Gyrus	brain
29	chr12:41099000-41101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:41099200-41102000	Weak transcription	A549	lung
31	chr12:41101600-41101800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr12:41101800-41102200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:41102000-41102800	Enhancers	A549	lung
34	chr12:41102200-41102800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:41102800-41103800	Weak transcription	A549	lung
36	chr12:41102800-41107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:41103800-41104000	Enhancers	A549	lung
38	chr12:41104000-41104400	Weak transcription	A549	lung
39	chr12:41104400-41105400	Enhancers	A549	lung
40	chr12:41104600-41105600	Enhancers	GM12878-XiMat	blood
41	chr12:41105200-41105800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:41105400-41107600	Weak transcription	A549	lung
43	chr12:41107600-41110200	Enhancers	A549	lung
44	chr12:41107800-41109600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr12:41108400-41109000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:41109400-41110000	Enhancers	NHEK	skin
47	chr12:41109600-41110000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:41109600-41110200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:41110000-41112000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr12:41110200-41110400	Flanking Active TSS	A549	lung

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