Variant report

Variant	esv3398512
Chromosome Location	chr12:46122335-46125333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1077)
CpG islands
(count:550)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1077 , 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	chr12:46124352-46125041	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:46122175-46122881	K562	blood:	n/a	chr12:46122643-46122658
3	ARID3A	chr12:46122081-46122976	HepG2	liver:	n/a	chr12:46122643-46122658
4	ATF1	chr12:46122363-46122867	K562	blood:	n/a	n/a
5	ATF2	chr12:46122443-46122918	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:46122099-46123032	GM12878	blood:	n/a	n/a
7	ATF2	chr12:46120981-46122982	GM12878	blood:	n/a	chr12:46121417-46121424
8	ATF3	chr12:46122503-46122978	A549	lung:	n/a	n/a
9	BACH1	chr12:46123839-46123929	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr12:46122380-46122971	K562	blood:	n/a	n/a
11	BACH1	chr12:46122305-46123107	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr12:46122478-46122926	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:46122490-46122865	GM12878	blood:	n/a	n/a
14	BCL11A	chr12:46125205-46125485	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr12:46122347-46123004	GM12878	blood:	n/a	n/a
16	BCL3	chr12:46120617-46122918	A549	lung:	n/a	chr12:46121341-46121354 chr12:46120986-46120999 chr12:46121119-46121128 chr12:46121331-46121340 chr12:46121339-46121348 chr12:46121334-46121343
17	BCL3	chr12:46122312-46123072	A549	lung:	n/a	chr12:46123043-46123056
18	BCLAF1	chr12:46120989-46123039	GM12878	blood:	n/a	chr12:46121341-46121354 chr12:46121119-46121128 chr12:46121331-46121340 chr12:46121339-46121348 chr12:46121334-46121343
19	BCLAF1	chr12:46122103-46123028	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:46122380-46123017	K562	blood:	n/a	n/a
21	BCLAF1	chr12:46123466-46123971	GM12878	blood:	n/a	chr12:46123508-46123517 chr12:46123509-46123522 chr12:46123727-46123740 chr12:46123508-46123521
22	BCLAF1	chr12:46122155-46123002	K562	blood:	n/a	n/a
23	BHLHE40	chr12:46123686-46123826	K562	blood:	n/a	n/a
24	BHLHE40	chr12:46122418-46123933	GM12878	blood:	n/a	chr12:46123155-46123171 chr12:46123507-46123523 chr12:46122937-46122953 chr12:46123158-46123174 chr12:46122832-46122848 chr12:46122878-46122894
25	BHLHE40	chr12:46122183-46123312	K562	blood:	n/a	chr12:46123155-46123171 chr12:46122937-46122953 chr12:46123158-46123174 chr12:46122832-46122848 chr12:46122878-46122894
26	BHLHE40	chr12:46122448-46123012	HepG2	liver:	n/a	chr12:46122937-46122953 chr12:46122832-46122848 chr12:46122878-46122894
27	BRCA1	chr12:46122378-46122916	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr12:46122766-46122900	GM12878	blood:	n/a	n/a
29	BRCA1	chr12:46122667-46122881	HepG2	liver:	n/a	n/a
30	CBX3	chr12:46122361-46123060	HCT-116	colon:	n/a	n/a
31	CBX3	chr12:46122096-46123025	K562	blood:	n/a	n/a
32	CBX3	chr12:46122576-46122879	K562	blood:	n/a	n/a
33	CCNT2	chr12:46122448-46124529	K562	blood:	n/a	chr12:46123049-46123058 chr12:46124000-46124009 chr12:46123043-46123052 chr12:46123264-46123273
34	CEBPB	chr12:46122290-46122891	K562	blood:	n/a	n/a
35	CEBPB	chr12:46122170-46122879	K562	blood:	n/a	chr12:46122212-46122223 chr12:46122212-46122223
36	CEBPB	chr12:46122466-46122876	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr12:46122192-46122839	HepG2	liver:	n/a	chr12:46122212-46122223 chr12:46122212-46122223
38	CEBPB	chr12:46120971-46122997	GM12878	blood:	n/a	chr12:46122212-46122223 chr12:46121764-46121775 chr12:46121762-46121775 chr12:46122212-46122223
39	CEBPB	chr12:46122154-46122950	Hela-S3	cervix:	n/a	chr12:46122212-46122223 chr12:46122212-46122223
40	CEBPB	chr12:46122549-46122707	HepG2	liver:	n/a	n/a
41	CEBPB	chr12:46122109-46122943	ECC-1	luminal epithelium:	n/a	chr12:46122212-46122223 chr12:46122212-46122223
42	CEBPD	chr12:46122562-46122824	HepG2	liver:	n/a	n/a
43	CEBPD	chr12:46122318-46123059	K562	blood:	n/a	n/a
44	CEBPD	chr12:46123048-46123281	HepG2	liver:	n/a	n/a
45	CEBPD	chr12:46122388-46122999	HepG2	liver:	n/a	n/a
46	CHD1	chr12:46123201-46123244	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr12:46124243-46124556	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr12:46123500-46123957	H1-hESC	embryonic stem cell:	n/a	chr12:46123740-46123750
49	CHD1	chr12:46122187-46124622	GM12878	blood:	n/a	chr12:46123740-46123750
50	CHD1	chr12:46124806-46125834	H1-hESC	embryonic stem cell:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:46122355-46122405	SK-N-MC	brain:	n/a
2	chr12:46122355-46122405	SK-N-MC	brain:	n/a
3	chr12:46124107-46124157	HEEpiC	esophagus:	n/a
4	chr12:46122355-46122405	HEK293	kidney:	embryo
5	chr12:46123163-46123213	A549	lung:	n/a
6	chr12:46122733-46122783	AoSMC	blood vessel:	n/a
7	chr12:46123850-46123900	HMEC	breast:	n/a
8	chr12:46123569-46123619	HIPEpiC	eye:	n/a
9	chr12:46123569-46123619	SKMC	muscle:	n/a
10	chr12:46124107-46124157	HEK293	kidney:	embryo
11	chr12:46123553-46123603	GM06990	blood:	n/a
12	chr12:46123553-46123603	HCT-116	colon:	n/a
13	chr12:46124298-46124348	GM12892	blood:	n/a
14	chr12:46123569-46123619	Caco-2	colon:	n/a
15	chr12:46124298-46124348	HEK293	kidney:	embryo
16	chr12:46123850-46123900	GM19239	blood:	n/a
17	chr12:46124298-46124348	GM12891	blood:	n/a
18	chr12:46123569-46123619	T-47D	breast:	n/a
19	chr12:46123569-46123619	GM12878	blood:	n/a
20	chr12:46122355-46122405	SK-N-SH	brain:	n/a
21	chr12:46122733-46122783	HL-60	blood:	n/a
22	chr12:46124107-46124157	K562	blood:	n/a
23	chr12:46123569-46123619	IMR90	lung:	fetal
24	chr12:46123163-46123213	BE2_C	brain:	n/a
25	chr12:46123569-46123619	ECC-1	luminal epithelium:	n/a
26	chr12:46123163-46123213	BJ	skin:	n/a
27	chr12:46124298-46124348	HMEC	breast:	n/a
28	chr12:46123163-46123213	NH-A	brain:	n/a
29	chr12:46123850-46123900	PFSK-1	brain:	n/a
30	chr12:46122355-46122405	HNPCEpiC	eye:	n/a
31	chr12:46123569-46123619	SK-N-SH_RA	brain:	n/a
32	chr12:46122355-46122405	HCPEpiC	choroid plexus:	n/a
33	chr12:46123553-46123603	U87	brain:	n/a
34	chr12:46124107-46124157	SK-N-SH	brain:	n/a
35	chr12:46123553-46123603	IMR90	lung:	fetal
36	chr12:46123163-46123213	SK-N-SH_RA	brain:	n/a
37	chr12:46123569-46123619	GM19239	blood:	n/a
38	chr12:46124298-46124348	NB4	blood:	n/a
39	chr12:46123670-46123720	RPTEC	kidney:	n/a
40	chr12:46123569-46123619	AG04449	skin:	fetal
41	chr12:46122733-46122783	HEK293	kidney:	embryo
42	chr12:46122355-46122405	RPTEC	kidney:	n/a
43	chr12:46124107-46124157	HCPEpiC	choroid plexus:	n/a
44	chr12:46123850-46123900	HepG2	liver:	n/a
45	chr12:46123553-46123603	HRPEpiC	eye:	n/a
46	chr12:46122733-46122783	GM19239	blood:	n/a
47	chr12:46124107-46124157	HL-60	blood:	n/a
48	chr12:46122355-46122405	GM12892	blood:	n/a
49	chr12:46122733-46122783	NHDF-neo	bronchial:	n/a
50	chr12:46123670-46123720	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:45609285..45610968-chr12:46122757..46125582,2	K562	blood:
2	chr1:100503227..100504085-chr12:46122224..46123082,2	NB4	blood:
3	chr12:46122050..46122610-chr15:59980562..59981488,2	NB4	blood:
4	chr12:46125135..46126997-chr12:46148099..46150790,2	MCF-7	breast:
5	chr12:45749106..45751356-chr12:46123739..46125901,2	MCF-7	breast:
6	chr12:46123074..46125001-chr12:46284357..46286236,2	K562	blood:
7	chr12:46121653..46122524-chr9:91925924..91926498,2	Hela-S3	cervix:
8	chr12:46122376..46123075-chr9:80646837..80647341,2	NB4	blood:
9	chr12:46122440..46123008-chr16:56641922..56642453,2	Hela-S3	cervix:
10	chr12:46122863..46123418-chr19:5690225..5690819,2	Hela-S3	cervix:
11	chr12:46121418..46125188-chr12:46383049..46386096,7	MCF-7	breast:
12	chr12:46123169..46123849-chr19:10305393..10306253,2	NB4	blood:
13	chr12:46119720..46123062-chr12:46761797..46766025,4	K562	blood:
14	chr1:111505963..111506673-chr12:46122703..46123662,2	Hela-S3	cervix:
15	chr12:46122158..46123204-chr3:52026001..52026840,3	NB4	blood:
16	chr12:46123288..46123815-chr17:73042555..73043077,2	Hela-S3	cervix:
17	chr12:46122082..46123036-chr2:71503611..71504112,2	NB4	blood:
18	chr12:46121915..46124342-chr16:77224976..77226839,2	K562	blood:
19	chr12:46120104..46122628-chr15:65587373..65590217,2	MCF-7	breast:
20	chr12:45609128..45611204-chr12:46122660..46124378,3	MCF-7	breast:
21	chr12:46121288..46123809-chr12:46776247..46778764,2	K562	blood:
22	chr1:153505791..153506308-chr12:46122874..46123709,2	Hela-S3	cervix:
23	chr12:46123086..46123888-chr19:9938240..9939022,2	NB4	blood:
24	chr12:45609319..45611052-chr12:46119877..46122690,3	K562	blood:
25	chr12:6899102..6900016-chr12:46122500..46123058,2	NB4	blood:
26	chr12:46122139..46122834-chr2:53994555..53995309,2	NB4	blood:
27	chr12:46122051..46122767-chr13:103425733..103426609,2	NB4	blood:
28	chr1:43147823..43148552-chr12:46122834..46123798,2	Hela-S3	cervix:
29	chr1:228353085..228353668-chr12:46122198..46122805,2	Hela-S3	cervix:
30	chr12:46122467..46123016-chr12:49658474..49659318,2	Hela-S3	cervix:
31	chr12:46122123..46122895-chr20:44992314..44993122,2	Hela-S3	cervix:
32	chr12:46122734..46124564-chr12:46660289..46662102,2	K562	blood:
33	chr12:46122307..46123393-chr5:56205766..56206663,3	Hela-S3	cervix:
34	chr12:46122224..46122960-chr17:7387467..7388032,2	NB4	blood:
35	chr12:46121076..46123268-chr17:57969257..57971945,2	MCF-7	breast:
36	chr12:46122051..46122776-chr14:68161548..68162255,2	Hela-S3	cervix:
37	chr12:46122182..46123020-chr3:185542181..185543127,2	NB4	blood:
38	chr12:46122253..46122834-chr12:52450421..52451236,2	Hela-S3	cervix:
39	chr12:46122303..46123212-chr20:4871721..4872609,2	NB4	blood:
40	chr12:46122202..46122734-chr7:155437299..155438250,2	NB4	blood:
41	chr12:45608238..45611148-chr12:46119877..46124655,5	K562	blood:
42	chr12:46119720..46122632-chr12:46763272..46766407,3	K562	blood:
43	chr12:46122516..46123361-chr12:123078570..123079462,2	NB4	blood:
44	chr12:46122832..46123372-chr2:172290381..172290990,2	NB4	blood:
45	chr12:46122779..46123364-chr15:22833031..22833566,2	Hela-S3	cervix:
46	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
47	chr12:46117578..46127110-chr12:46379884..46387671,22	K562	blood:
48	chr12:46122681..46123305-chr12:46156413..46157018,2	MCF-7	breast:
49	chr12:46122058..46125027-chr12:46229101..46230947,2	K562	blood:
50	chr12:46119690..46125014-chr12:46381902..46386942,12	K562	blood:

No data

Variant related genes	Relation type
ARID2	TF binding region
LINC00938	TF binding region
ARID2	CpG island
LINC00938	CpG island
ENSG00000108423	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000257261	chromatin interactions
ENSG00000259238	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000075292	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000121931	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000225230	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000134297	chromatin interactions
ENSG00000080189	chromatin interactions
ENSG00000238279	chromatin interactions
ENSG00000127452	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000140299	chromatin interactions
ENSG00000155542	chromatin interactions
ENSG00000125148	chromatin interactions
ENSG00000177119	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000216895	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000258096	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000073792	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000189079	chromatin interactions
ENSG00000123975	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000130255	chromatin interactions
ENSG00000198258	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000151287	chromatin interactions
ENSG00000184863	chromatin interactions
ENSG00000103111	chromatin interactions
ENSG00000167863	chromatin interactions
ENSG00000156875	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191190123	chr12:46122389-46122390	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
2	rs527461994	chr12:46122415-46122416	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
3	rs551918556	chr12:46122461-46122462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
4	rs78852230	chr12:46122469-46122470	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
5	rs75836179	chr12:46122473-46122474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
6	rs386762708	chr12:46122500-46122501	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
7	rs182195331	chr12:46122502-46122503	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
8	rs536574664	chr12:46122508-46122509	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
9	rs149309577	chr12:46122516-46122517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
10	rs368520577	chr12:46122554-46122555	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
11	rs540847001	chr12:46122568-46122569	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
12	rs566484131	chr12:46122643-46122644	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
13	rs141765655	chr12:46122645-46122646	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
14	rs373519735	chr12:46122653-46122654	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs374235165	chr12:46122659-46122660	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs577420967	chr12:46122664-46122665	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs544692997	chr12:46122671-46122672	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
18	rs372821330	chr12:46122713-46122714	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
19	rs185456456	chr12:46122734-46122735	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
20	rs534045575	chr12:46122751-46122752	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
21	rs541787446	chr12:46122759-46122760	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
22	rs560038225	chr12:46122768-46122769	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
23	rs527541011	chr12:46122843-46122844	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
24	rs551955500	chr12:46122859-46122860	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
25	rs113566754	chr12:46122871-46122872	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
26	rs147480280	chr12:46122878-46122879	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
27	rs531347217	chr12:46122931-46122932	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
28	rs549830243	chr12:46122986-46122987	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
29	rs190118228	chr12:46123134-46123135	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs61925771	chr12:46123143-46123144	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
31	rs567990206	chr12:46123145-46123146	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs535453131	chr12:46123281-46123282	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
33	rs139985611	chr12:46123318-46123319	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs567182026	chr12:46123367-46123368	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs534449896	chr12:46123411-46123412	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs559243614	chr12:46123412-46123413	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs532310273	chr12:46123448-46123449	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs71067904	chr12:46123485-46123486	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs577360287	chr12:46123488-46123489	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs540748478	chr12:46123507-46123508	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs373954525	chr12:46123508-46123509	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs371482522	chr12:46123582-46123583	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs374763794	chr12:46123596-46123597	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs183369822	chr12:46123605-46123606	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs375590924	chr12:46123606-46123607	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs371270329	chr12:46123608-46123609	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs374143008	chr12:46123633-46123634	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs574811185	chr12:46123637-46123638	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs542215365	chr12:46123643-46123644	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs560068535	chr12:46123647-46123648	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46116600-46127200	Active TSS	GM12878-XiMat	blood
2	chr12:46117800-46126600	Active TSS	Fetal Thymus	thymus
3	chr12:46118000-46127000	Active TSS	Thymus	Thymus
4	chr12:46118400-46125000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr12:46118400-46126000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:46118400-46126000	Active TSS	NHLF	lung
7	chr12:46118600-46125000	Active TSS	Dnd41	blood
8	chr12:46118600-46125000	Active TSS	K562	blood
9	chr12:46118600-46125200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:46118600-46126000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:46118800-46122400	Active TSS	Right Atrium	heart
12	chr12:46118800-46125200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:46118800-46125600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:46118800-46126000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:46118800-46126400	Active TSS	Fetal Muscle Leg	muscle
16	chr12:46118800-46127200	Active TSS	Ovary	ovary
17	chr12:46119000-46125400	Active TSS	Brain Angular Gyrus	brain
18	chr12:46119000-46125400	Active TSS	Fetal Muscle Trunk	muscle
19	chr12:46119000-46125800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:46119000-46126000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:46119000-46126200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr12:46119000-46126200	Active TSS	Brain Germinal Matrix	brain
23	chr12:46119000-46126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:46119000-46126400	Active TSS	Aorta	Aorta
25	chr12:46119000-46126400	Active TSS	Fetal Stomach	stomach
26	chr12:46119000-46126400	Active TSS	Right Ventricle	heart
27	chr12:46119000-46126800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:46119000-46127000	Active TSS	Psoas Muscle	Psoas
29	chr12:46119200-46124800	Active TSS	Brain Cingulate Gyrus	brain
30	chr12:46119200-46124800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:46119200-46125000	Active TSS	Brain Anterior Caudate	brain
32	chr12:46119200-46125000	Active TSS	Brain Hippocampus Middle	brain
33	chr12:46119200-46125000	Active TSS	Duodenum Mucosa	Duodenum
34	chr12:46119200-46125200	Active TSS	NH-A	brain
35	chr12:46119200-46125400	Active TSS	Colon Smooth Muscle	Colon
36	chr12:46119200-46125400	Active TSS	HSMM	muscle
37	chr12:46119200-46125600	Active TSS	Fetal Kidney	kidney
38	chr12:46119200-46125800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:46119200-46125800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:46119200-46126000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:46119200-46126000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr12:46119200-46126200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:46119200-46126200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr12:46119200-46126600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:46119200-46126800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:46119200-46126800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:46119200-46127000	Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:46119200-46127400	Active TSS	Stomach Smooth Muscle	stomach
49	chr12:46119400-46123000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr12:46119400-46125000	Active TSS	Primary T helper cells PMA-I stimulated	--

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