Variant report

Variant	esv3438467
Chromosome Location	chr12:122906324-122908322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:763)
CpG islands
(count:611)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:763 , 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	chr12:122905662-122906398	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:122908098-122908350	HepG2	liver:	n/a	n/a
3	ATF3	chr12:122907347-122907711	K562	blood:	n/a	n/a
4	BACH1	chr12:122906462-122906662	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:122907541-122907821	K562	blood:	n/a	n/a
6	BACH1	chr12:122907377-122907697	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr12:122907376-122908477	A549	lung:	n/a	chr12:122907453-122907462 chr12:122908089-122908098
8	BCL3	chr12:122905546-122906489	A549	lung:	n/a	n/a
9	BCLAF1	chr12:122906530-122906990	GM12878	blood:	n/a	chr12:122906751-122906760 chr12:122906543-122906556
10	BCLAF1	chr12:122908289-122908698	K562	blood:	n/a	n/a
11	BCLAF1	chr12:122908275-122908728	K562	blood:	n/a	n/a
12	BHLHE40	chr12:122906638-122906830	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:122906591-122906814	K562	blood:	n/a	n/a
14	BRCA1	chr12:122905620-122906720	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr12:122906276-122906446	GM12878	blood:	n/a	n/a
16	BRCA1	chr12:122907682-122907950	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr12:122906240-122906429	H1-hESC	embryonic stem cell:	n/a	n/a
18	CBX3	chr12:122907336-122907825	K562	blood:	n/a	n/a
19	CBX3	chr12:122908026-122908638	K562	blood:	n/a	n/a
20	CCNT2	chr12:122906370-122907536	K562	blood:	n/a	n/a
21	CEBPB	chr12:122907434-122907830	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:122908169-122908448	A549	lung:	n/a	n/a
23	CEBPB	chr12:122905982-122906378	A549	lung:	n/a	n/a
24	CEBPB	chr12:122908128-122908502	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr12:122905593-122906856	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:122905796-122906443	MCF-7	breast:	n/a	n/a
27	CEBPB	chr12:122905782-122906965	A549	lung:	n/a	n/a
28	CEBPD	chr12:122906886-122907233	HepG2	liver:	n/a	n/a
29	CHD1	chr12:122907471-122907614	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr12:122905889-122907024	GM12878	blood:	n/a	n/a
31	CHD1	chr12:122907272-122907539	GM12878	blood:	n/a	n/a
32	CHD1	chr12:122906868-122907057	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr12:122907843-122907894	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr12:122907490-122907497	GM12878	blood:	n/a	n/a
35	CHD2	chr12:122905863-122908123	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr12:122906159-122906414	GM12878	blood:	n/a	n/a
37	CHD2	chr12:122906437-122906713	HepG2	liver:	n/a	n/a
38	CHD2	chr12:122906263-122906442	K562	blood:	n/a	n/a
39	CHD2	chr12:122906651-122906956	GM12878	blood:	n/a	n/a
40	CREB1	chr12:122906479-122907299	A549	lung:	n/a	n/a
41	CREB1	chr12:122907326-122907680	A549	lung:	n/a	n/a
42	CTCF	chr12:122906700-122906850	GM12874	blood:	n/a	n/a
43	CTCF	chr12:122906760-122906910	BE2_C	brain:	n/a	n/a
44	CTCF	chr12:122906620-122906770	HEK293	kidney:	n/a	n/a
45	CTCF	chr12:122906760-122906910	GM12872	blood:	n/a	n/a
46	CTCF	chr12:122906595-122906820	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:122906700-122906850	NB4	blood:	n/a	n/a
48	CTCF	chr12:122906680-122906830	HVMF	connective:	n/a	n/a
49	CTCF	chr12:122906720-122906870	GM12873	blood:	n/a	n/a
50	CTCF	chr12:122906544-122906948	H1-hESC	embryonic stem cell:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122907814-122907864	HEEpiC	esophagus:	n/a
2	chr12:122907814-122907864	HEEpiC	esophagus:	n/a
3	chr12:122906407-122906457	NH-A	brain:	n/a
4	chr12:122907641-122907691	PFSK-1	brain:	n/a
5	chr12:122907647-122907697	HAEpiC	amniotic membrane:	n/a
6	chr12:122906318-122906368	SK-N-SH_RA	brain:	n/a
7	chr12:122907641-122907691	HepG2	liver:	n/a
8	chr12:122907090-122907140	GM19239	blood:	n/a
9	chr12:122906318-122906368	NHDF-neo	bronchial:	n/a
10	chr12:122906821-122906871	AG04449	skin:	fetal
11	chr12:122907641-122907691	ECC-1	luminal epithelium:	n/a
12	chr12:122907647-122907697	HUVEC	blood vessel:	n/a
13	chr12:122907090-122907140	H1-hESC	embryonic stem cell:	embryo
14	chr12:122907814-122907864	HAEpiC	amniotic membrane:	n/a
15	chr12:122907814-122907864	HL-60	blood:	n/a
16	chr12:122907641-122907691	H1-hESC	embryonic stem cell:	embryo
17	chr12:122906407-122906457	GM12892	blood:	n/a
18	chr12:122907814-122907864	NHDF-neo	bronchial:	n/a
19	chr12:122907647-122907697	BE2_C	brain:	n/a
20	chr12:122907647-122907697	GM19239	blood:	n/a
21	chr12:122907396-122907446	NT2-D1	testis:	n/a
22	chr12:122906821-122906871	GM06990	blood:	n/a
23	chr12:122906635-122906685	ProgFib	skin:	n/a
24	chr12:122906318-122906368	SK-N-MC	brain:	n/a
25	chr12:122906635-122906685	GM12891	blood:	n/a
26	chr12:122906821-122906871	MCF10A-Er-Src	breast:	n/a
27	chr12:122906821-122906871	HAEpiC	amniotic membrane:	n/a
28	chr12:122906500-122906550	ProgFib	skin:	n/a
29	chr12:122907396-122907446	Hepatocyte	liver:	n/a
30	chr12:122907814-122907864	SAEC	small airway:	n/a
31	chr12:122907641-122907691	LNCaP	prostate:	n/a
32	chr12:122906318-122906368	HCM	heart:	n/a
33	chr12:122906407-122906457	HIPEpiC	eye:	n/a
34	chr12:122907647-122907697	BJ	skin:	n/a
35	chr12:122906407-122906457	GM12878	blood:	n/a
36	chr12:122906821-122906871	AG04450	lung:	fetal
37	chr12:122907647-122907697	HCPEpiC	choroid plexus:	n/a
38	chr12:122906407-122906457	LNCaP	prostate:	n/a
39	chr12:122906821-122906871	NHBE	bronchial:	n/a
40	chr12:122906318-122906368	HUVEC	blood vessel:	n/a
41	chr12:122906821-122906871	PANC-1	pancreas:	n/a
42	chr12:122907647-122907697	HCF	heart:	n/a
43	chr12:122906635-122906685	HAEpiC	amniotic membrane:	n/a
44	chr12:122907641-122907691	CMK	blood:	n/a
45	chr12:122907396-122907446	HMEC	breast:	n/a
46	chr12:122906407-122906457	ovcar-3	ovarian:	n/a
47	chr12:122906821-122906871	A549	lung:	n/a
48	chr12:122906407-122906457	HL-60	blood:	n/a
49	chr12:122906635-122906685	NH-A	brain:	n/a
50	chr12:122907396-122907446	GM19239	blood:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122904832..122906414-chr12:122939257..122941013,2	MCF-7	breast:
2	chr10:101190607..101191603-chr12:122906528..122907282,2	Hela-S3	cervix:
3	chr11:118271538..118272393-chr12:122906361..122906950,2	HCT-116	colon:
4	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
5	chr12:122905706..122906639-chr8:59465457..59466042,2	Hela-S3	cervix:
6	chr10:32344743..32345244-chr12:122907567..122908541,2	Hela-S3	cervix:
7	chr1:159894566..159895411-chr12:122907645..122908495,2	Hela-S3	cervix:
8	chr12:122902575..122904900-chr12:122907634..122909136,2	MCF-7	breast:
9	chr12:122906748..122909467-chr12:123010139..123012944,2	K562	blood:
10	chr12:122906977..122907658-chr2:38977576..38978525,2	Hela-S3	cervix:
11	chr12:122906139..122907117-chr5:43120930..43121737,2	Hela-S3	cervix:
12	chr12:122908026..122909753-chr12:122911517..122913125,2	K562	blood:
13	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
14	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
15	chr12:122907836..122908689-chr5:36876906..36877771,2	Hela-S3	cervix:
16	chr12:122906075..122908078-chr12:122966404..122968368,2	MCF-7	breast:
17	chr12:122908054..122908892-chr14:46408991..46409734,2	MCF-7	breast:
18	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
19	chr12:122884770..122885313-chr12:122906068..122906999,2	MCF-7	breast:
20	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
21	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
22	chr12:122883813..122884476-chr12:122906517..122907101,2	MCF-7	breast:
23	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
24	chr12:122905165..122906940-chr12:122983858..122986344,2	MCF-7	breast:
25	chr12:122888608..122890909-chr12:122907280..122910436,3	K562	blood:
26	chr12:122907059..122907795-chr19:13264855..13265538,2	Hela-S3	cervix:
27	chr12:122904060..122906537-chr12:122948950..122950891,2	MCF-7	breast:
28	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:

No data

Variant related genes	Relation type
CLIP1	TF binding region
CLIP1	CpG island
ENSG00000167283	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000257097	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000254873	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000130779	chromatin interactions
ENSG00000137575	chromatin interactions
ENSG00000224934	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73405864	chr12:122906348-122906349	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546918743	chr12:122906400-122906401	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs571772867	chr12:122906403-122906404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs377565443	chr12:122906404-122906405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs539163326	chr12:122906426-122906427	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs556156358	chr12:122906444-122906445	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs192989202	chr12:122906451-122906452	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs575650029	chr12:122906462-122906463	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs183364709	chr12:122906651-122906652	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs554923908	chr12:122906654-122906655	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs573636302	chr12:122906685-122906686	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs137888112	chr12:122906742-122906743	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs370018967	chr12:122906824-122906825	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs143444695	chr12:122906923-122906924	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs559285138	chr12:122907098-122907099	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs577737836	chr12:122907165-122907166	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs188012955	chr12:122907209-122907210	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs111719623	chr12:122907232-122907233	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs576719946	chr12:122907268-122907269	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs200400958	chr12:122907334-122907335	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs527409582	chr12:122907341-122907342	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs563805629	chr12:122907396-122907397	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs191280524	chr12:122907454-122907455	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs531003728	chr12:122907544-122907545	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs372493229	chr12:122907548-122907549	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs150528026	chr12:122907660-122907661	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs377087016	chr12:122907667-122907668	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs561258603	chr12:122907669-122907670	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs371025111	chr12:122907670-122907671	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs561333779	chr12:122907747-122907748	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs535461211	chr12:122907775-122907776	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs528792210	chr12:122907779-122907780	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs555866194	chr12:122907780-122907781	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs61954448	chr12:122907794-122907795	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs553672562	chr12:122907802-122907803	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs571771002	chr12:122907829-122907830	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs532707361	chr12:122907928-122907929	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs114544058	chr12:122907933-122907934	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs569442710	chr12:122907952-122907953	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs189373634	chr12:122907962-122907963	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs536748717	chr12:122907993-122907994	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs554950307	chr12:122908068-122908069	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs149708470	chr12:122908090-122908091	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs534631397	chr12:122908094-122908095	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs553198089	chr12:122908119-122908120	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs192926306	chr12:122908121-122908122	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs545215688	chr12:122908147-122908148	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs12300880	chr12:122908206-122908207	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs190226656	chr12:122908208-122908209	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs75330178	chr12:122908285-122908286	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122904400-122907600	Active TSS	HSMMtube	muscle
2	chr12:122904800-122906400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:122904800-122906400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:122905000-122907800	Active TSS	Esophagus	oesophagus
5	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:122905400-122906400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:122905600-122906400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:122905600-122906400	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr12:122905600-122906400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:122905600-122906400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr12:122905600-122906400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr12:122905600-122906400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr12:122905600-122906400	Flanking Active TSS	Thymus	Thymus
17	chr12:122905600-122906600	Active TSS	Right Atrium	heart
18	chr12:122905600-122907000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:122905600-122907400	Active TSS	GM12878-XiMat	blood
20	chr12:122905600-122907600	Active TSS	NHLF	lung
21	chr12:122905600-122908200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:122905600-122908200	Active TSS	Right Ventricle	heart
23	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
25	chr12:122905800-122906400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr12:122905800-122906400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:122905800-122906600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr12:122905800-122906600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:122905800-122906600	Flanking Active TSS	Fetal Thymus	thymus
30	chr12:122905800-122907400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:122905800-122907400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:122905800-122907400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:122905800-122907400	Active TSS	Fetal Muscle Trunk	muscle
34	chr12:122905800-122907400	Active TSS	Placenta	Placenta
35	chr12:122905800-122907400	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:122905800-122907600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:122905800-122907600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:122905800-122907600	Active TSS	Fetal Intestine Large	intestine
39	chr12:122905800-122907600	Active TSS	Pancreas	Pancrea
40	chr12:122905800-122907600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr12:122905800-122907600	Active TSS	HSMM	muscle
42	chr12:122905800-122907800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr12:122905800-122907800	Active TSS	Aorta	Aorta
44	chr12:122905800-122907800	Active TSS	Colon Smooth Muscle	Colon
45	chr12:122905800-122907800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:122905800-122907800	Active TSS	Psoas Muscle	Psoas
47	chr12:122905800-122908000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:122905800-122908000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:122905800-122908200	Active TSS	NHDF-Ad	bronchial
50	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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