Variant report

Variant	nsv1051713
Chromosome Location	chr12:66745716-66889411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:751)
CpG islands
(count:366)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:66773376-66773398	K562	blood:	n/a	n/a
2	ATF1	chr12:66792993-66793128	K562	blood:	n/a	n/a
3	ATF1	chr12:66868458-66868657	K562	blood:	n/a	n/a
4	ATF1	chr12:66847165-66847232	K562	blood:	n/a	n/a
5	ATF1	chr12:66836978-66836983	K562	blood:	n/a	n/a
6	BACH1	chr12:66822775-66822839	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:66836887-66837138	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr12:66868545-66868695	GM12878	blood:	n/a	n/a
9	BRCA1	chr12:66790384-66790400	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr12:66803161-66803421	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr12:66853988-66854143	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr12:66773376-66773389	GM12878	blood:	n/a	n/a
13	CEBPB	chr12:66803129-66803329	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr12:66811149-66811261	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr12:66774630-66774861	IMR90	lung:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
16	CEBPB	chr12:66810444-66810587	A549	lung:	n/a	n/a
17	CEBPB	chr12:66774542-66774919	ECC-1	luminal epithelium:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
18	CEBPB	chr12:66774547-66774948	MCF-7	breast:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
19	CEBPB	chr12:66774578-66774914	H1-hESC	embryonic stem cell:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
20	CEBPB	chr12:66774572-66774895	HepG2	liver:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
21	CEBPB	chr12:66791410-66791719	IMR90	lung:	n/a	n/a
22	CEBPB	chr12:66774541-66774877	ECC-1	luminal epithelium:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
23	CEBPB	chr12:66781022-66781213	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr12:66759919-66760234	IMR90	lung:	n/a	chr12:66760089-66760102
25	CEBPB	chr12:66774576-66774912	K562	blood:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
26	CEBPB	chr12:66774685-66774854	K562	blood:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
27	CEBPB	chr12:66774615-66774910	Hela-S3	cervix:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
28	CEBPB	chr12:66774553-66774918	A549	lung:	n/a	chr12:66774741-66774750 chr12:66774739-66774752 chr12:66774741-66774750 chr12:66774741-66774750
29	CEBPB	chr12:66814069-66814269	HepG2	liver:	n/a	chr12:66814138-66814149 chr12:66814136-66814149 chr12:66814136-66814147
30	CEBPB	chr12:66839002-66839046	HepG2	liver:	n/a	chr12:66839006-66839019 chr12:66839007-66839018 chr12:66839006-66839019
31	CHD2	chr12:66835836-66835969	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr12:66754005-66754039	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:66882247-66882353	GM13976	blood:	n/a	n/a
34	CTCF	chr12:66803180-66803330	HCFaa	heart:	n/a	n/a
35	CTCF	chr12:66803105-66803429	Lung_OC	lung:	n/a	n/a
36	CTCF	chr12:66745800-66745950	AG04450	lung:	n/a	n/a
37	CTCF	chr12:66746100-66746250	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr12:66802942-66803056	GM12892	blood:	n/a	n/a
39	CTCF	chr12:66803049-66803452	K562	blood:	n/a	n/a
40	CTCF	chr12:66746056-66746279	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:66746080-66746230	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr12:66803160-66803310	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr12:66843470-66843511	NHEK	skin:	n/a	n/a
44	CTCF	chr12:66746100-66746250	HAc	cerebellar:	n/a	n/a
45	CTCF	chr12:66803180-66803330	GM12871	blood:	n/a	n/a
46	CTCF	chr12:66745951-66746254	A549	lung:	n/a	n/a
47	CTCF	chr12:66745960-66746445	K562	blood:	n/a	n/a
48	CTCF	chr12:66803180-66803330	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr12:66844810-66844886	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:66840220-66840370	GM12871	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:66859938-66859988	ProgFib	skin:	n/a
2	chr12:66765795-66765845	NB4	blood:	n/a
3	chr12:66860050-66860100	A549	lung:	n/a
4	chr12:66860050-66860100	T-47D	breast:	n/a
5	chr12:66765795-66765845	AG10803	skin:	n/a
6	chr12:66859938-66859988	AG04449	skin:	fetal
7	chr12:66860050-66860100	IMR90	lung:	fetal
8	chr12:66876894-66876944	AG10803	skin:	n/a
9	chr12:66820796-66820846	HIPEpiC	eye:	n/a
10	chr12:66876894-66876944	NT2-D1	testis:	n/a
11	chr12:66876894-66876944	Caco-2	colon:	n/a
12	chr12:66765795-66765845	MCF-7	breast:	n/a
13	chr12:66765795-66765845	HCT-116	colon:	n/a
14	chr12:66765795-66765845	Caco-2	colon:	n/a
15	chr12:66859938-66859988	HRE	kidney:	n/a
16	chr12:66860050-66860100	HepG2	liver:	n/a
17	chr12:66859938-66859988	RPTEC	kidney:	n/a
18	chr12:66859938-66859988	Caco-2	colon:	n/a
19	chr12:66876894-66876944	AG04449	skin:	fetal
20	chr12:66765795-66765845	NH-A	brain:	n/a
21	chr12:66820796-66820846	CMK	blood:	n/a
22	chr12:66820796-66820846	AoSMC	blood vessel:	n/a
23	chr12:66876894-66876944	Hepatocyte	liver:	n/a
24	chr12:66876894-66876944	PANC-1	pancreas:	n/a
25	chr12:66820796-66820846	HRE	kidney:	n/a
26	chr12:66860050-66860100	LNCaP	prostate:	n/a
27	chr12:66820796-66820846	GM12892	blood:	n/a
28	chr12:66889098-66889148	HMEC	breast:	n/a
29	chr12:66859938-66859988	PANC-1	pancreas:	n/a
30	chr12:66859938-66859988	HPAEpiC	pulmonary alveolar:	n/a
31	chr12:66859938-66859988	T-47D	breast:	n/a
32	chr12:66860050-66860100	AG09309	skin:	n/a
33	chr12:66860050-66860100	NT2-D1	testis:	n/a
34	chr12:66765795-66765845	HNPCEpiC	eye:	n/a
35	chr12:66859938-66859988	GM12891	blood:	n/a
36	chr12:66765795-66765845	AoSMC	blood vessel:	n/a
37	chr12:66860050-66860100	AoSMC	blood vessel:	n/a
38	chr12:66820796-66820846	ovcar-3	ovarian:	n/a
39	chr12:66860050-66860100	HCF	heart:	n/a
40	chr12:66820796-66820846	IMR90	lung:	fetal
41	chr12:66876894-66876944	ECC-1	luminal epithelium:	n/a
42	chr12:66859938-66859988	SAEC	small airway:	n/a
43	chr12:66820796-66820846	SK-N-MC	brain:	n/a
44	chr12:66889098-66889148	GM12878	blood:	n/a
45	chr12:66765795-66765845	AG04449	skin:	fetal
46	chr12:66876894-66876944	A549	lung:	n/a
47	chr12:66820796-66820846	HepG2	liver:	n/a
48	chr12:66889098-66889148	HRPEpiC	eye:	n/a
49	chr12:66889098-66889148	MCF10A-Er-Src	breast:	n/a
50	chr12:66765795-66765845	U87	brain:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:66748593..66750341-chr12:66758365..66760104,2	K562	blood:
2	chr12:66747608..66751823-chr12:66754396..66756352,3	K562	blood:
3	chr12:66531464..66533263-chr12:66791521..66794066,2	K562	blood:
4	chr12:66747608..66751823-chr12:66754396..66756352,3	K562	blood:
5	chr12:66774160..66776301-chr12:66791515..66793936,2	MCF-7	breast:
6	chr12:66791504..66793937-chr12:66803050..66804575,2	MCF-7	breast:
7	chr12:66840883..66843625-chr12:66848449..66851341,2	MCF-7	breast:
8	chr12:66827320..66828966-chr12:66832882..66835309,2	MCF-7	breast:
9	chr12:66751054..66753870-chr12:66758172..66760159,2	K562	blood:
10	chr12:66791504..66793937-chr12:66803050..66804575,2	MCF-7	breast:
11	chr12:66767792..66770468-chr12:66778295..66779908,2	MCF-7	breast:
12	chr12:66666955..66667519-chr12:66802730..66803266,2	MCF-7	breast:
13	chr12:66759522..66761041-chr12:66768695..66770743,2	K562	blood:
14	chr12:66749727..66751970-chr12:66768276..66769927,2	MCF-7	breast:
15	chr12:66743145..66746019-chr12:66747727..66750214,3	K562	blood:
16	chr12:66779885..66782238-chr12:66784678..66787137,2	K562	blood:
17	chr12:66840883..66843625-chr12:66848449..66851341,2	MCF-7	breast:
18	chr12:66755875..66758507-chr12:66758802..66761903,3	K562	blood:
19	chr12:66751054..66753870-chr12:66758172..66760159,2	K562	blood:
20	chr12:66850566..66853464-chr12:66854684..66856904,2	MCF-7	breast:
21	chr12:66672595..66673805-chr12:66802877..66803711,5	MCF-7	breast:
22	chr12:66743136..66744795-chr12:66748714..66751570,2	K562	blood:
23	chr12:66745711..66746634-chr12:67087184..67088269,6	MCF-7	breast:
24	chr12:66827320..66828966-chr12:66832882..66835309,2	MCF-7	breast:
25	chr12:66749727..66751970-chr12:66768276..66769927,2	MCF-7	breast:
26	chr12:66747608..66750126-chr12:66753544..66755896,2	K562	blood:
27	chr12:66827336..66831078-chr12:66843580..66846284,3	MCF-7	breast:
28	chr12:66748593..66750341-chr12:66758365..66760104,2	K562	blood:
29	chr12:66774160..66776301-chr12:66791515..66793936,2	MCF-7	breast:
30	chr12:66746100..66746625-chr12:66802819..66803678,2	MCF-7	breast:
31	chr12:66827336..66831078-chr12:66843580..66846284,3	MCF-7	breast:
32	chr12:66745697..66746293-chr12:67082336..67083172,2	MCF-7	breast:
33	chr12:66843010..66844547-chr12:66845605..66847114,2	MCF-7	breast:
34	chr12:66746100..66746625-chr12:66802819..66803678,2	MCF-7	breast:
35	chr12:66820120..66821687-chr12:66824941..66827561,2	K562	blood:
36	chr12:66850566..66853464-chr12:66854684..66856904,2	MCF-7	breast:
37	chr12:66840182..66840898-chr9:125188644..125189534,2	HCT-116	colon:
38	chr12:66765529..66767418-chr12:66769371..66770936,2	K562	blood:
39	chr12:66787772..66790243-chr12:66792913..66794848,2	MCF-7	breast:
40	chr12:66767792..66770468-chr12:66778295..66779908,2	MCF-7	breast:
41	chr12:66747608..66750126-chr12:66753544..66755896,2	K562	blood:
42	chr12:66774714..66776959-chr12:66777282..66778823,2	MCF-7	breast:
43	chr12:66759522..66761041-chr12:66768695..66770743,2	K562	blood:
44	chr12:66843010..66844547-chr12:66845605..66847114,2	MCF-7	breast:
45	chr12:66755875..66758507-chr12:66758802..66761903,3	K562	blood:
46	chr12:66743145..66746019-chr12:66747727..66750214,3	K562	blood:
47	chr12:66820120..66821687-chr12:66824941..66827561,2	K562	blood:
48	chr12:66774714..66776959-chr12:66777282..66778823,2	MCF-7	breast:
49	chr12:66787772..66790243-chr12:66792913..66794848,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRIP1	TF binding region
GRIP1	CpG island
ENSG00000155957	chromatin interactions
ENSG00000155974	chromatin interactions

Extended variants
information (count: 5431 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5431 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143212696	chr12:66745742-66745743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550516755	chr12:66745757-66745758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536429538	chr12:66745758-66745759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs903590	chr12:66745777-66745778	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs533088116	chr12:66745800-66745801	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546715787	chr12:66745824-66745825	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs903589	chr12:66745835-66745836	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs111658262	chr12:66745854-66745855	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535115585	chr12:66745858-66745859	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs903588	chr12:66745880-66745881	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533472252	chr12:66745906-66745907	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531311399	chr12:66745918-66745919	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191879041	chr12:66745994-66745995	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182946401	chr12:66745995-66745996	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577017006	chr12:66745997-66745998	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34432478	chr12:66746038-66746039	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs903587	chr12:66746061-66746062	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs376224697	chr12:66746069-66746070	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140413400	chr12:66746079-66746080	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573240301	chr12:66746118-66746119	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150336899	chr12:66746132-66746133	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562078553	chr12:66746134-66746135	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575483459	chr12:66746169-66746170	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544472710	chr12:66746172-66746173	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564319426	chr12:66746216-66746217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1168317	chr12:66746225-66746226	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs546778426	chr12:66746238-66746239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1168316	chr12:66746239-66746240	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs528956874	chr12:66746248-66746249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548720065	chr12:66746262-66746263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145011255	chr12:66746266-66746267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537374442	chr12:66746278-66746279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550851205	chr12:66746328-66746329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570766735	chr12:66746340-66746341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547998409	chr12:66746346-66746347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148945625	chr12:66746372-66746373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553121353	chr12:66746385-66746386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573271737	chr12:66746405-66746406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535927626	chr12:66746417-66746418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143700193	chr12:66746451-66746452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140068432	chr12:66746486-66746487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367717476	chr12:66746487-66746488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372375277	chr12:66746491-66746492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200502837	chr12:66746492-66746493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201425066	chr12:66746493-66746494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199615270	chr12:66746495-66746496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575591491	chr12:66746560-66746561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544558929	chr12:66746659-66746660	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs185708669	chr12:66746680-66746681	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs1168315	chr12:66746694-66746695	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
2	chr12:66725400-66746400	Weak transcription	Small Intestine	intestine
3	chr12:66735000-66751200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:66735600-66745800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:66735600-66747600	Weak transcription	Gastric	stomach
6	chr12:66735600-66751400	Weak transcription	Esophagus	oesophagus
7	chr12:66735600-66752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:66735600-66755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:66735800-66747200	Weak transcription	Colonic Mucosa	Colon
10	chr12:66735800-66749800	Weak transcription	Spleen	Spleen
11	chr12:66735800-66750400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:66735800-66751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:66735800-66754600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:66735800-66759800	Weak transcription	Thymus	Thymus
15	chr12:66736000-66746600	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:66736000-66751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:66736000-66766400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:66736200-66746600	Weak transcription	Fetal Lung	lung
19	chr12:66736400-66745800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:66736600-66759600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:66737200-66746000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:66737200-66746600	Weak transcription	Pancreas	Pancrea
23	chr12:66737200-66748000	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:66737200-66749200	Weak transcription	Lung	lung
25	chr12:66737200-66751000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:66737400-66756600	Weak transcription	Aorta	Aorta
27	chr12:66738000-66792800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:66738200-66770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:66738800-66770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:66739200-66746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:66739200-66747400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:66739200-66758600	Weak transcription	Fetal Intestine Small	intestine
33	chr12:66739400-66746400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:66739400-66747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:66739400-66765800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:66739400-66766200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:66740000-66748600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:66740600-66746800	Weak transcription	Brain Anterior Caudate	brain
39	chr12:66740600-66747800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:66740800-66748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:66742200-66745800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:66742200-66749000	Strong transcription	Primary T cells from cord blood	blood
43	chr12:66742600-66746000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:66743000-66787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:66743200-66763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:66743200-66763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:66743400-66746000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:66743400-66749600	Weak transcription	Placenta	Placenta
49	chr12:66743400-66761600	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:66743600-66764000	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

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