Variant report

Variant	esv3357232
Chromosome Location	chr12:124017349-124019447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:629)
CpG islands
(count:305)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124017367-124017624	K562	blood:	n/a	n/a
2	ARID3A	chr12:124018494-124018555	K562	blood:	n/a	n/a
3	BACH1	chr12:124019171-124019340	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:124018798-124018914	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:124017686-124018120	A549	lung:	n/a	chr12:124018049-124018058 chr12:124017704-124017717
6	BHLHE40	chr12:124018484-124018487	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:124018423-124019050	HepG2	liver:	n/a	n/a
8	BHLHE40	chr12:124017420-124018105	K562	blood:	n/a	chr12:124017636-124017652
9	BHLHE40	chr12:124017508-124017986	HepG2	liver:	n/a	chr12:124017636-124017652
10	BHLHE40	chr12:124017548-124018031	GM12878	blood:	n/a	chr12:124017636-124017652
11	BRCA1	chr12:124017817-124017913	HepG2	liver:	n/a	n/a
12	BRCA1	chr12:124017418-124017970	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr12:124017259-124018108	K562	blood:	n/a	n/a
14	CCNT2	chr12:124017594-124018993	K562	blood:	n/a	chr12:124018745-124018754
15	CEBPB	chr12:124018984-124018993	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:124019007-124019041	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:124017334-124018091	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr12:124018621-124018818	HepG2	liver:	n/a	n/a
19	CEBPD	chr12:124018426-124018877	HepG2	liver:	n/a	n/a
20	CHD1	chr12:124017718-124017825	GM12878	blood:	n/a	n/a
21	CHD2	chr12:124018613-124019088	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr12:124018432-124019068	K562	blood:	n/a	chr12:124018515-124018525
23	CHD2	chr12:124017754-124018058	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr12:124017725-124017983	HepG2	liver:	n/a	n/a
25	CHD2	chr12:124018403-124019075	Hela-S3	cervix:	n/a	chr12:124018515-124018525
26	CHD2	chr12:124017413-124018001	K562	blood:	n/a	n/a
27	CHD2	chr12:124017817-124017994	GM12878	blood:	n/a	n/a
28	CHD2	chr12:124018530-124018978	HepG2	liver:	n/a	n/a
29	CREB1	chr12:124017568-124018148	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr12:124018284-124019232	HepG2	liver:	n/a	n/a
31	CREB1	chr12:124017473-124018163	A549	lung:	n/a	n/a
32	CREB1	chr12:124018304-124019001	A549	lung:	n/a	n/a
33	CTBP2	chr12:124018842-124019373	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr12:124018760-124018910	GM12873	blood:	n/a	n/a
35	CTCF	chr12:124018800-124018950	HepG2	liver:	n/a	chr12:124018907-124018916
36	CTCF	chr12:124018440-124018590	HMEC	breast:	n/a	n/a
37	CTCF	chr12:124018740-124018890	K562	blood:	n/a	n/a
38	CTCF	chr12:124018820-124018970	AG09319	gingival:	n/a	chr12:124018907-124018916
39	CTCF	chr12:124018780-124018930	GM12872	blood:	n/a	chr12:124018907-124018916
40	CTCF	chr12:124018780-124018930	HRPEpiC	eye:	n/a	chr12:124018907-124018916
41	CTCF	chr12:124018880-124019150	GM06990	blood:	n/a	chr12:124018907-124018916
42	CTCF	chr12:124018880-124019030	K562	blood:	n/a	chr12:124018907-124018916
43	CTCF	chr12:124018720-124018870	GM12869	blood:	n/a	n/a
44	CTCF	chr12:124019140-124019290	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr12:124018800-124018950	HEEpiC	esophagus:	n/a	chr12:124018907-124018916
46	CTCF	chr12:124018880-124019030	A549	lung:	n/a	chr12:124018907-124018916
47	CTCF	chr12:124018302-124018685	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:124018540-124018690	SAEC	small airway:	n/a	n/a
49	CTCF	chr12:124017834-124017873	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:124018934-124018957	MCF-7	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124018993-124019043	AG04450	lung:	fetal
2	chr12:124019284-124019334	HAEpiC	amniotic membrane:	n/a
3	chr12:124017975-124018025	A549	lung:	n/a
4	chr12:124017613-124017663	HRPEpiC	eye:	n/a
5	chr12:124018993-124019043	HCT-116	colon:	n/a
6	chr12:124018993-124019043	PrEC	prostate:	n/a
7	chr12:124018993-124019043	HEEpiC	esophagus:	n/a
8	chr12:124017975-124018025	HNPCEpiC	eye:	n/a
9	chr12:124017613-124017663	PrEC	prostate:	n/a
10	chr12:124019284-124019334	GM12891	blood:	n/a
11	chr12:124019284-124019334	NH-A	brain:	n/a
12	chr12:124017613-124017663	AG04449	skin:	fetal
13	chr12:124018492-124018542	SK-N-SH	brain:	n/a
14	chr12:124019284-124019334	MCF10A-Er-Src	breast:	n/a
15	chr12:124019284-124019334	ProgFib	skin:	n/a
16	chr12:124019284-124019334	SK-N-SH_RA	brain:	n/a
17	chr12:124018993-124019043	NHBE	bronchial:	n/a
18	chr12:124017613-124017663	T-47D	breast:	n/a
19	chr12:124018492-124018542	GM12878	blood:	n/a
20	chr12:124017975-124018025	Hepatocyte	liver:	n/a
21	chr12:124017975-124018025	HCM	heart:	n/a
22	chr12:124018492-124018542	Hepatocyte	liver:	n/a
23	chr12:124018492-124018542	SAEC	small airway:	n/a
24	chr12:124019284-124019334	RPTEC	kidney:	n/a
25	chr12:124017613-124017663	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:124017613-124017663	H1-hESC	embryonic stem cell:	embryo
27	chr12:124017613-124017663	GM12892	blood:	n/a
28	chr12:124019284-124019334	PFSK-1	brain:	n/a
29	chr12:124019284-124019334	ovcar-3	ovarian:	n/a
30	chr12:124017613-124017663	GM19239	blood:	n/a
31	chr12:124017613-124017663	HAEpiC	amniotic membrane:	n/a
32	chr12:124019284-124019334	CMK	blood:	n/a
33	chr12:124017975-124018025	H1-hESC	embryonic stem cell:	embryo
34	chr12:124017613-124017663	SKMC	muscle:	n/a
35	chr12:124018492-124018542	NHBE	bronchial:	n/a
36	chr12:124017613-124017663	HIPEpiC	eye:	n/a
37	chr12:124017975-124018025	NHDF-neo	bronchial:	n/a
38	chr12:124017975-124018025	SK-N-SH_RA	brain:	n/a
39	chr12:124017975-124018025	T-47D	breast:	n/a
40	chr12:124017975-124018025	ovcar-3	ovarian:	n/a
41	chr12:124018993-124019043	GM19239	blood:	n/a
42	chr12:124018492-124018542	T-47D	breast:	n/a
43	chr12:124017613-124017663	HRCEpiC	kidney:	n/a
44	chr12:124017975-124018025	SK-N-MC	brain:	n/a
45	chr12:124018993-124019043	Caco-2	colon:	n/a
46	chr12:124017613-124017663	AG09319	gingival:	n/a
47	chr12:124018993-124019043	ECC-1	luminal epithelium:	n/a
48	chr12:124017975-124018025	PANC-1	pancreas:	n/a
49	chr12:124017613-124017663	RPTEC	kidney:	n/a
50	chr12:124018993-124019043	MCF10A-Er-Src	breast:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123998884..124001416-chr12:124016546..124018370,2	K562	blood:
2	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
3	chr12:123912338..123913868-chr12:124018894..124020678,2	K562	blood:
4	chr12:124017823..124018449-chr6:26156256..26156790,2	HCT-116	colon:
5	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
6	chr12:124017444..124019100-chr12:124084646..124086674,2	MCF-7	breast:
7	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
8	chr12:123930108..123930636-chr12:124018341..124019216,2	MCF-7	breast:
9	chr12:123943032..123944561-chr12:124016969..124018583,2	MCF-7	breast:
10	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
11	chr12:124015709..124018064-chr12:124066858..124069100,3	MCF-7	breast:
12	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:
13	chr12:124018609..124020737-chr12:124028286..124031087,2	MCF-7	breast:
14	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:
15	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
16	chr12:124006455..124008310-chr12:124016022..124017705,2	K562	blood:
17	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
18	chr12:124018289..124019128-chr19:50370267..50370907,2	Hela-S3	cervix:
19	chr12:124018963..124020649-chr12:124025084..124027162,2	MCF-7	breast:
20	chr12:123942564..123944577-chr12:124016063..124019666,4	MCF-7	breast:
21	chr12:123947470..123950375-chr12:124015636..124018854,3	K562	blood:
22	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
23	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
24	chr12:124016749..124018606-chr12:124069216..124071514,2	K562	blood:
25	chr12:123921165..123922728-chr12:124019054..124020967,2	K562	blood:

No data

Variant related genes	Relation type
MIR3908	TF binding region
RILPL1	TF binding region
MIR3908	CpG island
RILPL1	CpG island
ENSG00000150977	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000266655	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000188026	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190640711	chr12:124017402-124017403	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs180843715	chr12:124017403-124017404	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs534384578	chr12:124017428-124017429	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs559341130	chr12:124017484-124017485	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs577619299	chr12:124017485-124017486	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs369103333	chr12:124017506-124017507	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs538501708	chr12:124017515-124017516	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs35866415	chr12:124017568-124017569	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs28478308	chr12:124017569-124017570	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542335189	chr12:124017585-124017586	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs560366458	chr12:124017658-124017659	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs572740187	chr12:124017671-124017672	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs370114080	chr12:124017697-124017698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs564690773	chr12:124017793-124017794	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs532290305	chr12:124017796-124017797	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs28492040	chr12:124017850-124017851	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368755460	chr12:124017859-124017860	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs117058568	chr12:124017877-124017878	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs376174727	chr12:124018002-124018003	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs28613813	chr12:124018026-124018027	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs184645169	chr12:124018144-124018145	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs554179658	chr12:124018267-124018268	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs113011043	chr12:124018273-124018274	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs189503750	chr12:124018478-124018479	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs533827535	chr12:124018490-124018491	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs552815746	chr12:124018527-124018528	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs541500431	chr12:124018583-124018584	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs571020536	chr12:124018588-124018589	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs538557293	chr12:124018621-124018622	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs556555738	chr12:124018645-124018646	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs574808184	chr12:124018647-124018648	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs571898526	chr12:124018815-124018816	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs113886302	chr12:124018816-124018817	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs201054021	chr12:124018825-124018826	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs533226812	chr12:124018870-124018871	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs367729085	chr12:124018877-124018878	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs554286890	chr12:124018884-124018885	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs572210163	chr12:124018936-124018937	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs1533245	chr12:124018986-124018987	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs564759902	chr12:124019006-124019007	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs1533246	chr12:124019055-124019056	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74951470	chr12:124019075-124019076	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs532427994	chr12:124019130-124019131	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs529744240	chr12:124019147-124019148	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs78067009	chr12:124019231-124019232	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
46	rs560153312	chr12:124019242-124019243	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs137971438	chr12:124019294-124019295	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs552271036	chr12:124019333-124019334	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs112319707	chr12:124019362-124019363	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs566859968	chr12:124019373-124019374	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124001200-124017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:124001400-124017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:124006200-124017600	Weak transcription	Small Intestine	intestine
4	chr12:124007800-124017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:124008000-124017400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:124008400-124017400	Weak transcription	Gastric	stomach
7	chr12:124015200-124017400	Enhancers	Pancreas	Pancrea
8	chr12:124015400-124018000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:124015800-124017400	Enhancers	Esophagus	oesophagus
10	chr12:124016000-124017400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr12:124016000-124017400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:124016000-124017400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:124016000-124017400	Enhancers	Fetal Lung	lung
14	chr12:124016000-124017600	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr12:124016200-124017400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:124016200-124017800	Flanking Active TSS	HUVEC	blood vessel
17	chr12:124016200-124018000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:124016400-124017400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:124016400-124017400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:124016400-124017400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:124016400-124017400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:124016400-124017400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:124016400-124017400	Enhancers	Liver	Liver
24	chr12:124016400-124017400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr12:124016400-124017400	Enhancers	Colonic Mucosa	Colon
26	chr12:124016400-124017400	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:124016400-124017400	Enhancers	Fetal Intestine Large	intestine
28	chr12:124016400-124017600	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:124016400-124017600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:124016400-124017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:124016400-124017600	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:124016400-124017600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:124016400-124017600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr12:124016400-124017600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:124016400-124017600	Enhancers	Spleen	Spleen
36	chr12:124016400-124017600	Flanking Active TSS	Osteobl	bone
37	chr12:124016400-124018000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:124016400-124018000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:124016400-124018000	Flanking Active TSS	HMEC	breast
40	chr12:124016400-124019400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:124016600-124017400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:124016600-124017400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:124016600-124017400	Enhancers	Primary T cells from cord blood	blood
44	chr12:124016600-124017400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:124016600-124017400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:124016600-124017400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr12:124016600-124017400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:124016600-124017400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:124016600-124017400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:124016600-124017400	Enhancers	Rectal Mucosa Donor 31	rectum

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