Variant report

Variant	nsv770
Chromosome Location	chr12:72615837-72660510
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	ATF1	chr12:72629341-72629533	K562	blood:	n/a	n/a
2	BATF	chr12:72622916-72623164	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:72622248-72622534	A549	lung:	n/a	chr12:72622400-72622411
4	CEBPB	chr12:72622237-72622530	H1-hESC	embryonic stem cell:	n/a	chr12:72622400-72622411
5	CEBPB	chr12:72622280-72622535	HepG2	liver:	n/a	chr12:72622400-72622411
6	CEBPB	chr12:72622236-72622592	IMR90	lung:	n/a	chr12:72622400-72622411
7	CEBPB	chr12:72622294-72622438	K562	blood:	n/a	chr12:72622400-72622411
8	CEBPB	chr12:72642225-72642514	IMR90	lung:	n/a	chr12:72642288-72642299 chr12:72642405-72642416 chr12:72642407-72642416
9	CEBPB	chr12:72629939-72630226	IMR90	lung:	n/a	n/a
10	CEBPB	chr12:72642220-72642541	HepG2	liver:	n/a	chr12:72642288-72642299 chr12:72642405-72642416 chr12:72642407-72642416
11	CEBPB	chr12:72624112-72624829	IMR90	lung:	n/a	chr12:72624205-72624216 chr12:72624201-72624212
12	CTCF	chr12:72658480-72658591	Lung_OC	lung:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
13	CTCF	chr12:72658440-72658590	HPF	lung:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
14	CTCF	chr12:72658460-72658610	HCM	heart:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
15	CTCF	chr12:72658427-72658632	GM12878	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
16	CTCF	chr12:72658460-72658610	HCFaa	heart:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
17	CTCF	chr12:72658458-72658582	Gliobla	brain:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
18	CTCF	chr12:72658240-72658390	HAc	cerebellar:	n/a	n/a
19	CTCF	chr12:72658500-72658650	SAEC	small airway:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
20	CTCF	chr12:72658400-72658550	HEK293	kidney:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
21	CTCF	chr12:72658460-72658610	NHEK	skin:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
22	CTCF	chr12:72658440-72658590	GM12874	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
23	CTCF	chr12:72658440-72658590	GM12872	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
24	CTCF	chr12:72658440-72658590	NHDF-neo	bronchial:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
25	CTCF	chr12:72658440-72658590	GM06990	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
26	CTCF	chr12:72658445-72658625	Hela-S3	cervix:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
27	CTCF	chr12:72658413-72658640	HUVEC	blood vessel:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
28	CTCF	chr12:72658424-72658614	SK-N-SH_RA	brain:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
29	CTCF	chr12:72658460-72658610	Caco-2	colon:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
30	CTCF	chr12:72658435-72658592	GM13977	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
31	CTCF	chr12:72658420-72658570	GM12872	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
32	CTCF	chr12:72658420-72658570	HVMF	connective:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
33	CTCF	chr12:72658440-72658590	AG09309	skin:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
34	CTCF	chr12:72658434-72658622	LNCaP	prostate:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
35	CTCF	chr12:72658440-72658590	NB4	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
36	CTCF	chr12:72658480-72658630	GM12873	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
37	CTCF	chr12:72658490-72658578	Spleen_OC	spleen:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
38	CTCF	chr12:72658460-72658610	GM12865	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
39	CTCF	chr12:72658440-72658590	AG04450	lung:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
40	CTCF	chr12:72658440-72658590	HPAF	blood vessel:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
41	CTCF	chr12:72658458-72658602	Pancreas_OC	pancreas:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
42	CTCF	chr12:72658440-72658590	GM12866	blood:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
43	CTCF	chr12:72655760-72655910	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr12:72658440-72658590	HRPEpiC	eye:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
45	CTCF	chr12:72658295-72658600	H1-hESC	embryonic stem cell:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
46	CTCF	chr12:72658440-72658590	HBMEC	blood vessel:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
47	CTCF	chr12:72655740-72655975	GM12878	blood:	n/a	n/a
48	CTCF	chr12:72658442-72658589	Kidney_OC	kidney:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
49	CTCF	chr12:72658440-72658598	MCF-7	breast:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545
50	CTCF	chr12:72658460-72658610	HEEpiC	esophagus:	n/a	chr12:72658529-72658550 chr12:72658528-72658544 chr12:72658530-72658543 chr12:72658527-72658545

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:72629072-72629122	HCF	heart:	n/a
2	chr12:72629575-72629625	NT2-D1	testis:	n/a
3	chr12:72629072-72629122	AG09309	skin:	n/a
4	chr12:72629072-72629122	AoSMC	blood vessel:	n/a
5	chr12:72629072-72629122	NH-A	brain:	n/a
6	chr12:72629575-72629625	NB4	blood:	n/a
7	chr12:72629575-72629625	AoSMC	blood vessel:	n/a
8	chr12:72629575-72629625	SK-N-SH_RA	brain:	n/a
9	chr12:72629575-72629625	HRPEpiC	eye:	n/a
10	chr12:72629072-72629122	AG10803	skin:	n/a
11	chr12:72629575-72629625	HMEC	breast:	n/a
12	chr12:72629575-72629625	IMR90	lung:	fetal
13	chr12:72629072-72629122	Hepatocyte	liver:	n/a
14	chr12:72629575-72629625	HRCEpiC	kidney:	n/a
15	chr12:72629575-72629625	HCPEpiC	choroid plexus:	n/a
16	chr12:72629072-72629122	PrEC	prostate:	n/a
17	chr12:72629072-72629122	HCPEpiC	choroid plexus:	n/a
18	chr12:72629072-72629122	NB4	blood:	n/a
19	chr12:72629072-72629122	SK-N-MC	brain:	n/a
20	chr12:72629072-72629122	HRE	kidney:	n/a
21	chr12:72629072-72629122	GM19239	blood:	n/a
22	chr12:72629575-72629625	SKMC	muscle:	n/a
23	chr12:72629575-72629625	ProgFib	skin:	n/a
24	chr12:72629072-72629122	H1-hESC	embryonic stem cell:	embryo
25	chr12:72629072-72629122	HCM	heart:	n/a
26	chr12:72629575-72629625	HRE	kidney:	n/a
27	chr12:72629072-72629122	GM12892	blood:	n/a
28	chr12:72629072-72629122	BE2_C	brain:	n/a
29	chr12:72629072-72629122	GM12878	blood:	n/a
30	chr12:72629072-72629122	AG09319	gingival:	n/a
31	chr12:72629072-72629122	GM06990	blood:	n/a
32	chr12:72629575-72629625	HCM	heart:	n/a
33	chr12:72629072-72629122	HEK293	kidney:	embryo
34	chr12:72629575-72629625	PrEC	prostate:	n/a
35	chr12:72629575-72629625	Hepatocyte	liver:	n/a
36	chr12:72629575-72629625	HepG2	liver:	n/a
37	chr12:72629072-72629122	HMEC	breast:	n/a
38	chr12:72629072-72629122	HUVEC	blood vessel:	n/a
39	chr12:72629072-72629122	K562	blood:	n/a
40	chr12:72629575-72629625	HL-60	blood:	n/a
41	chr12:72629575-72629625	HEK293	kidney:	embryo
42	chr12:72629072-72629122	PANC-1	pancreas:	n/a
43	chr12:72629575-72629625	AG09309	skin:	n/a
44	chr12:72629575-72629625	HNPCEpiC	eye:	n/a
45	chr12:72629575-72629625	Caco-2	colon:	n/a
46	chr12:72629575-72629625	HUVEC	blood vessel:	n/a
47	chr12:72629575-72629625	HEEpiC	esophagus:	n/a
48	chr12:72629575-72629625	Jurkat	blood:	n/a
49	chr12:72629072-72629122	NHDF-neo	bronchial:	n/a
50	chr12:72629575-72629625	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:72657850..72659523-chr12:72661531..72663362,2	K562	blood:
2	chr12:72637215..72640174-chr12:72643324..72645971,2	MCF-7	breast:
3	chr12:72614247..72616555-chr12:72616788..72619336,2	K562	blood:
4	chr12:72648843..72652816-chr12:72654350..72657526,3	K562	blood:
5	chr12:72651403..72653348-chr12:72653429..72655077,2	MCF-7	breast:
6	chr12:72637215..72640174-chr12:72643324..72645971,2	MCF-7	breast:
7	chr12:72614247..72616555-chr12:72616788..72619336,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFC3H1-6	chr12:72658262-72658401	ENSG00000236333
2	lnc-ZFC3H1-6	chr12:72649461-72649554	ENSG00000236333
3	lnc-ZFC3H1-6	chr12:72653166-72653223	XLOC_010128
4	lnc-ZFC3H1-6	chr12:72647334-72648394	XLOC_010128
5	lnc-ZFC3H1-6	chr12:72649184-72649554	XLOC_010128
6	lnc-ZFC3H1-6	chr12:72647497-72648394	XLOC_010128
7	lnc-ZFC3H1-6	chr12:72647293-72649554	ENSG00000236333
8	lnc-ZFC3H1-6	chr12:72658315-72658401	NONHSAT029467
9	lnc-TPH2-3	chr12:72652079-72654128	NONHSAT029464
10	lnc-ZFC3H1-6	chr12:72647293-72649554	XLOC_010128
11	lnc-ZFC3H1-6	chr12:72647288-72652020	ENSG00000236333
12	lnc-ZFC3H1-6	chr12:72649182-72649521	XLOC_010128

Variant related genes	Relation type
TRHDE-AS1	TF binding region
TRHDE-AS1	CpG island
ENSG00000236333	chromatin interactions
UHRF2	miRNA target sites
LRRC40	miRNA target sites
LYSMD3	miRNA target sites
ING3	miRNA target sites
LASS2	miRNA target sites
PTPN12	miRNA target sites

Extended variants
information (count: 1283 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs643109	chr12:72622043-72622044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2956438	chr12:72622063-72622064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs643448	chr12:72622065-72622066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565518356	chr12:72622094-72622095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200733710	chr12:72622102-72622103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191974912	chr12:72622128-72622129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573404855	chr12:72622145-72622146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370801175	chr12:72622151-72622152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373972978	chr12:72622176-72622177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542287318	chr12:72622179-72622180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2948460	chr12:72622180-72622181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537053673	chr12:72622185-72622186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs644313	chr12:72622264-72622265	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555398317	chr12:72622310-72622311	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528060393	chr12:72622330-72622331	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573818672	chr12:72622365-72622366	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541108716	chr12:72622390-72622391	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183272850	chr12:72622470-72622471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151103834	chr12:72622521-72622522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12424107	chr12:72622552-72622553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs645731	chr12:72622615-72622616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189011552	chr12:72622639-72622640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565640097	chr12:72622665-72622666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546041958	chr12:72622692-72622693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564806295	chr12:72622693-72622694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531911543	chr12:72622709-72622710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200228744	chr12:72622723-72622724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141119570	chr12:72622731-72622732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150189190	chr12:72622774-72622775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7976923	chr12:72622783-72622784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192509755	chr12:72622801-72622802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184367016	chr12:72622838-72622839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189720096	chr12:72622848-72622849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551239301	chr12:72622856-72622857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367752540	chr12:72622911-72622912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536935100	chr12:72622982-72622983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191826823	chr12:72623013-72623014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35474350	chr12:72623014-72623015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371584118	chr12:72623019-72623020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35571045	chr12:72623038-72623039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs616796	chr12:72623041-72623042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs616832	chr12:72623064-72623065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs616858	chr12:72623087-72623088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs658351	chr12:72623102-72623103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567247252	chr12:72623105-72623106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534570792	chr12:72623110-72623111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112860968	chr12:72623178-72623179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141568296	chr12:72623214-72623215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540074433	chr12:72623241-72623242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs658898	chr12:72623243-72623244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72622000-72622200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:72622000-72624200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:72622200-72622400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr12:72622200-72624000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:72622400-72627800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:72623600-72624000	Enhancers	NHDF-Ad	bronchial
7	chr12:72624000-72624200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:72624000-72624400	Enhancers	NHLF	lung
9	chr12:72624000-72624600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:72624000-72625400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:72624000-72628600	Weak transcription	NHDF-Ad	bronchial
12	chr12:72624200-72624400	Enhancers	Osteobl	bone
13	chr12:72624200-72624600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:72624200-72625000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:72624200-72625400	Enhancers	NH-A	brain
16	chr12:72624400-72624800	Weak transcription	NHLF	lung
17	chr12:72624400-72625800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:72624400-72629000	Weak transcription	Osteobl	bone
19	chr12:72624600-72625000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:72624600-72626200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:72624800-72625600	Enhancers	NHLF	lung
22	chr12:72625000-72625600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:72625000-72625800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:72625200-72629400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:72625400-72629400	Weak transcription	NH-A	brain
26	chr12:72625400-72629600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:72625600-72628400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:72625600-72629200	Weak transcription	NHLF	lung
29	chr12:72625800-72627000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:72625800-72629000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:72626200-72628800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:72627000-72627600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:72627400-72629400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:72627600-72628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:72627800-72628000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:72628000-72628400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:72628400-72629000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:72628400-72630800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:72628600-72630800	Enhancers	NHDF-Ad	bronchial
40	chr12:72628800-72629800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:72628800-72630400	Enhancers	HMEC	breast
42	chr12:72628800-72630600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:72629000-72629600	Enhancers	Osteobl	bone
44	chr12:72629000-72629800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:72629200-72629600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr12:72629200-72629800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:72629200-72630000	Enhancers	NHLF	lung
48	chr12:72629200-72630400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:72629400-72629600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:72629400-72630400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links