Variant report

Variant	esv1797043
Chromosome Location	chr12:64237504-64256568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1079)
CpG islands
(count:733)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1079 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:64256027-64256474	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:64237560-64237994	HepG2	liver:	n/a	n/a
3	ATF3	chr12:64255861-64256565	A549	lung:	n/a	n/a
4	ATF3	chr12:64237449-64238018	A549	lung:	n/a	n/a
5	ATF3	chr12:64237371-64238069	A549	lung:	n/a	n/a
6	BACH1	chr12:64238672-64238907	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:64237368-64237963	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr12:64237690-64237925	GM12878	blood:	n/a	n/a
9	BATF	chr12:64247807-64248068	GM12878	blood:	n/a	n/a
10	BCL3	chr12:64255849-64256807	A549	lung:	n/a	chr12:64256368-64256377 chr12:64256297-64256305
11	BCL3	chr12:64251477-64252236	A549	lung:	n/a	n/a
12	BCL3	chr12:64255893-64256921	A549	lung:	n/a	chr12:64256368-64256377 chr12:64256297-64256305
13	BCL3	chr12:64238356-64239146	A549	lung:	n/a	n/a
14	BCL3	chr12:64237582-64237909	GM12878	blood:	n/a	chr12:64237583-64237596
15	BCLAF1	chr12:64237576-64238031	GM12878	blood:	n/a	chr12:64237583-64237596
16	BCLAF1	chr12:64237422-64238113	GM12878	blood:	n/a	chr12:64238031-64238044 chr12:64237583-64237596
17	BHLHE40	chr12:64237495-64238031	GM12878	blood:	n/a	chr12:64237962-64237978 chr12:64237615-64237631 chr12:64237744-64237760
18	BHLHE40	chr12:64237536-64237987	K562	blood:	n/a	chr12:64237962-64237978 chr12:64237615-64237631 chr12:64237744-64237760
19	BHLHE40	chr12:64256012-64256392	A549	lung:	n/a	n/a
20	BHLHE40	chr12:64237474-64238007	HepG2	liver:	n/a	chr12:64237962-64237978 chr12:64237615-64237631 chr12:64237744-64237760
21	BHLHE40	chr12:64237602-64237918	A549	lung:	n/a	chr12:64237615-64237631 chr12:64237744-64237760
22	BRCA1	chr12:64237631-64237909	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr12:64237390-64237914	HepG2	liver:	n/a	n/a
24	BRCA1	chr12:64239678-64239728	GM12878	blood:	n/a	n/a
25	BRCA1	chr12:64256000-64256388	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:64237499-64237992	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr12:64237584-64237913	K562	blood:	n/a	n/a
28	CCNT2	chr12:64237380-64238051	K562	blood:	n/a	n/a
29	CEBPB	chr12:64255500-64255629	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr12:64238686-64238825	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:64255357-64255680	IMR90	lung:	n/a	n/a
32	CEBPB	chr12:64238400-64240522	Hela-S3	cervix:	n/a	chr12:64239667-64239684 chr12:64240324-64240337
33	CEBPB	chr12:64252487-64252618	IMR90	lung:	n/a	n/a
34	CEBPB	chr12:64251737-64252152	A549	lung:	n/a	n/a
35	CEBPB	chr12:64243469-64243658	IMR90	lung:	n/a	n/a
36	CEBPB	chr12:64239534-64239862	HepG2	liver:	n/a	chr12:64239667-64239684
37	CEBPB	chr12:64256014-64256540	MCF-7	breast:	n/a	n/a
38	CEBPB	chr12:64240177-64240470	IMR90	lung:	n/a	chr12:64240324-64240337
39	CEBPB	chr12:64256012-64256572	MCF-7	breast:	n/a	n/a
40	CEBPB	chr12:64240159-64240495	A549	lung:	n/a	chr12:64240324-64240337
41	CEBPB	chr12:64255830-64256935	A549	lung:	n/a	n/a
42	CEBPB	chr12:64243578-64243697	K562	blood:	n/a	n/a
43	CEBPB	chr12:64252223-64252644	A549	lung:	n/a	n/a
44	CEBPB	chr12:64240178-64240492	HepG2	liver:	n/a	chr12:64240324-64240337
45	CEBPB	chr12:64256017-64256507	A549	lung:	n/a	n/a
46	CEBPB	chr12:64240164-64240598	MCF-7	breast:	n/a	chr12:64240324-64240337
47	CEBPB	chr12:64237678-64237919	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr12:64255986-64256930	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr12:64256047-64256479	A549	lung:	n/a	n/a
50	CEBPB	chr12:64237457-64237971	Hela-S3	cervix:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64240787-64240837	SK-N-SH	brain:	n/a
2	chr12:64240787-64240837	SK-N-SH	brain:	n/a
3	chr12:64238366-64238416	HCF	heart:	n/a
4	chr12:64238043-64238093	CMK	blood:	n/a
5	chr12:64240787-64240837	BE2_C	brain:	n/a
6	chr12:64240787-64240837	HEEpiC	esophagus:	n/a
7	chr12:64238396-64238446	HUVEC	blood vessel:	n/a
8	chr12:64238396-64238446	Hepatocyte	liver:	n/a
9	chr12:64238719-64238769	K562	blood:	n/a
10	chr12:64238719-64238769	SAEC	small airway:	n/a
11	chr12:64238396-64238446	ovcar-3	ovarian:	n/a
12	chr12:64240787-64240837	HepG2	liver:	n/a
13	chr12:64238366-64238416	NT2-D1	testis:	n/a
14	chr12:64238043-64238093	HCT-116	colon:	n/a
15	chr12:64237532-64237582	Jurkat	blood:	n/a
16	chr12:64238366-64238416	AG10803	skin:	n/a
17	chr12:64238424-64238474	K562	blood:	n/a
18	chr12:64240787-64240837	HMEC	breast:	n/a
19	chr12:64238538-64238588	CMK	blood:	n/a
20	chr12:64238043-64238093	BJ	skin:	n/a
21	chr12:64237532-64237582	SK-N-MC	brain:	n/a
22	chr12:64238538-64238588	HCT-116	colon:	n/a
23	chr12:64238043-64238093	PFSK-1	brain:	n/a
24	chr12:64238607-64238657	PANC-1	pancreas:	n/a
25	chr12:64238379-64238429	PrEC	prostate:	n/a
26	chr12:64238396-64238446	CMK	blood:	n/a
27	chr12:64238503-64238553	AG10803	skin:	n/a
28	chr12:64238043-64238093	AG04450	lung:	fetal
29	chr12:64237532-64237582	HRCEpiC	kidney:	n/a
30	chr12:64238379-64238429	PFSK-1	brain:	n/a
31	chr12:64238538-64238588	LNCaP	prostate:	n/a
32	chr12:64238719-64238769	HRPEpiC	eye:	n/a
33	chr12:64238607-64238657	LNCaP	prostate:	n/a
34	chr12:64238043-64238093	HMEC	breast:	n/a
35	chr12:64238366-64238416	SK-N-SH_RA	brain:	n/a
36	chr12:64237532-64237582	GM06990	blood:	n/a
37	chr12:64238396-64238446	AG09319	gingival:	n/a
38	chr12:64238503-64238553	SKMC	muscle:	n/a
39	chr12:64237532-64237582	PANC-1	pancreas:	n/a
40	chr12:64238503-64238553	ProgFib	skin:	n/a
41	chr12:64238366-64238416	BE2_C	brain:	n/a
42	chr12:64238396-64238446	PrEC	prostate:	n/a
43	chr12:64238503-64238553	PANC-1	pancreas:	n/a
44	chr12:64238396-64238446	NHBE	bronchial:	n/a
45	chr12:64238607-64238657	HRE	kidney:	n/a
46	chr12:64238424-64238474	CMK	blood:	n/a
47	chr12:64238325-64238375	ovcar-3	ovarian:	n/a
48	chr12:64240787-64240837	NHBE	bronchial:	n/a
49	chr12:64240787-64240837	AG04449	skin:	fetal
50	chr12:64238424-64238474	HEEpiC	esophagus:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64246806..64249435-chr12:64262805..64265409,2	K562	blood:
2	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
3	chr12:64241662..64243647-chr12:64288984..64291005,2	MCF-7	breast:
4	chr12:64254946..64256892-chr12:64282588..64284962,2	MCF-7	breast:
5	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:
6	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:
7	chr12:64236758..64238491-chr12:64513269..64515825,2	MCF-7	breast:
8	chr12:64240146..64242509-chr12:64254956..64256783,2	MCF-7	breast:
9	chr12:64237925..64239667-chr12:64240036..64242683,2	K562	blood:
10	chr12:64248653..64250464-chr12:64256025..64258029,2	MCF-7	breast:
11	chr12:64240094..64242329-chr12:64649536..64651426,2	MCF-7	breast:
12	chr12:64248021..64249552-chr12:64270096..64271954,2	MCF-7	breast:
13	chr12:64243123..64244682-chr12:64261360..64263267,2	MCF-7	breast:
14	chr12:64240054..64242405-chr12:64482423..64484975,2	MCF-7	breast:
15	chr12:64238646..64240219-chr12:64329765..64332123,2	MCF-7	breast:
16	chr12:64235116..64240404-chr12:64242494..64248805,7	MCF-7	breast:
17	chr12:64240320..64243216-chr12:64291651..64293921,2	MCF-7	breast:
18	chr12:64237577..64240346-chr12:64245227..64250030,4	MCF-7	breast:
19	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:
20	chr12:50505708..50506336-chr12:64237320..64237922,2	Hela-S3	cervix:
21	chr12:64238158..64239661-chr12:64250605..64253293,2	MCF-7	breast:
22	chr12:64237199..64239425-chr12:64240324..64242683,2	K562	blood:
23	chr12:64248653..64250464-chr12:64256025..64258029,2	MCF-7	breast:
24	chr12:64235952..64238772-chr12:64614485..64617363,3	K562	blood:
25	chr12:64239389..64242178-chr12:64352043..64353568,2	MCF-7	breast:
26	chr12:64254678..64258025-chr12:64259314..64262432,3	MCF-7	breast:
27	chr12:64240035..64242114-chr12:64615625..64617239,2	MCF-7	breast:
28	chr12:64238988..64240941-chr12:64313933..64315670,2	MCF-7	breast:
29	chr12:64237304..64239476-chr12:64424891..64426645,2	MCF-7	breast:
30	chr12:64240146..64242509-chr12:64254956..64256783,2	MCF-7	breast:
31	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:

No data

Variant related genes	Relation type
SRGAP1	TF binding region
SRGAP1	CpG island
ENSG00000243024	chromatin interactions
ENSG00000255817	chromatin interactions
ENSG00000118600	chromatin interactions
ENSG00000174206	chromatin interactions
ENSG00000255780	chromatin interactions
ENSG00000272368	chromatin interactions
ENSG00000196935	chromatin interactions
ENSG00000178449	chromatin interactions

Extended variants
information (count: 653 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577018730	chr12:64237506-64237507	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs184404890	chr12:64237533-64237534	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs189034509	chr12:64237635-64237636	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs139203223	chr12:64237645-64237646	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs11175181	chr12:64237665-64237666	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs180911400	chr12:64237674-64237675	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs112469641	chr12:64237684-64237685	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs187017027	chr12:64237729-64237730	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs191052877	chr12:64237813-64237814	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs77959372	chr12:64237847-64237848	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs550103181	chr12:64237850-64237851	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs114982941	chr12:64237864-64237865	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs532805578	chr12:64237867-64237868	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs76448170	chr12:64237886-64237887	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs374569437	chr12:64237959-64237960	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs563704155	chr12:64238006-64238007	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs534888307	chr12:64238066-64238067	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs554785017	chr12:64238067-64238068	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs56264182	chr12:64238097-64238098	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74925438	chr12:64238141-64238142	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs556885195	chr12:64238177-64238178	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs576775508	chr12:64238193-64238194	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs545818248	chr12:64238230-64238231	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs552970409	chr12:64238266-64238267	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs573220282	chr12:64238338-64238339	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs547502298	chr12:64238359-64238360	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs542036007	chr12:64238375-64238376	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs529319917	chr12:64238386-64238387	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs561867689	chr12:64238402-64238403	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs181551075	chr12:64238403-64238404	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs185983612	chr12:64238407-64238408	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs542731408	chr12:64238468-64238469	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs532382342	chr12:64238483-64238484	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs190052409	chr12:64238500-64238501	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs559612805	chr12:64238556-64238557	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs371778163	chr12:64238620-64238621	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs145629853	chr12:64238626-64238627	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs200438685	chr12:64238678-64238679	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs370855657	chr12:64238687-64238688	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs73124639	chr12:64238726-64238727	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568334768	chr12:64238728-64238729	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs182840440	chr12:64238729-64238730	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs550385957	chr12:64238730-64238731	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs77405318	chr12:64238753-64238754	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375808622	chr12:64238767-64238768	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs555764384	chr12:64238768-64238769	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs386763724	chr12:64238771-64238772	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs559508542	chr12:64238772-64238773	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs76897723	chr12:64238814-64238815	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553044517	chr12:64238837-64238838	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Lissencephaly	21572526	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
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	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
Multiple myeloma	16616336	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64236800-64238400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:64236800-64238400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr12:64236800-64238400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:64236800-64238600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:64236800-64238800	Active TSS	Fetal Brain Female	brain
6	chr12:64236800-64239600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:64236800-64239600	Active TSS	Brain Substantia Nigra	brain
8	chr12:64236800-64239600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:64236800-64240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:64236800-64240800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:64237000-64237600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr12:64237000-64237600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr12:64237000-64237600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:64237000-64237600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr12:64237000-64238400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:64237000-64238400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:64237000-64238400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:64237000-64238400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr12:64237000-64238400	Active TSS	K562	blood
20	chr12:64237000-64238600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:64237000-64238600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:64237000-64238600	Active TSS	Esophagus	oesophagus
23	chr12:64237000-64238600	Active TSS	Fetal Muscle Trunk	muscle
24	chr12:64237000-64239000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:64237000-64239000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:64237000-64239000	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:64237000-64239200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:64237000-64239200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:64237000-64239200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:64237000-64239200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:64237000-64239400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:64237000-64239400	Active TSS	Colon Smooth Muscle	Colon
33	chr12:64237000-64239400	Active TSS	Stomach Smooth Muscle	stomach
34	chr12:64237000-64239600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:64237000-64239600	Active TSS	Brain Cingulate Gyrus	brain
36	chr12:64237000-64239600	Active TSS	Duodenum Mucosa	Duodenum
37	chr12:64237000-64239600	Active TSS	Fetal Lung	lung
38	chr12:64237000-64239600	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr12:64237000-64239600	Active TSS	Right Atrium	heart
40	chr12:64237000-64239600	Active TSS	Right Ventricle	heart
41	chr12:64237000-64239600	Active TSS	NH-A	brain
42	chr12:64237000-64239800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:64237000-64239800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:64237000-64239800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:64237000-64239800	Active TSS	Fetal Intestine Small	intestine
46	chr12:64237000-64239800	Active TSS	Left Ventricle	heart
47	chr12:64237000-64239800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:64237000-64240000	Active TSS	Ovary	ovary
49	chr12:64237000-64240000	Active TSS	HMEC	breast
50	chr12:64237000-64240000	Active TSS	Osteobl	bone

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