Variant report

Variant	esv3327583
Chromosome Location	chr12:120426194-120428742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:686)
CpG islands
(count:610)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120426272-120426439	K562	blood:	n/a	n/a
2	ARID3A	chr12:120426946-120426970	K562	blood:	n/a	n/a
3	BACH1	chr12:120426289-120426464	K562	blood:	n/a	n/a
4	BACH1	chr12:120427640-120427818	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:120426133-120427103	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr12:120428278-120428463	GM12878	blood:	n/a	n/a
7	BCLAF1	chr12:120426645-120426999	GM12878	blood:	n/a	chr12:120426812-120426825 chr12:120426755-120426768 chr12:120426814-120426827
8	BHLHE40	chr12:120427649-120427835	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:120426527-120427257	GM12878	blood:	n/a	chr12:120426819-120426835 chr12:120426595-120426611 chr12:120426812-120426828 chr12:120426992-120427008 chr12:120426807-120426823
10	BHLHE40	chr12:120426388-120427256	K562	blood:	n/a	chr12:120426819-120426835 chr12:120426595-120426611 chr12:120426812-120426828 chr12:120426992-120427008 chr12:120426807-120426823
11	BRCA1	chr12:120426757-120426942	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr12:120427610-120427871	K562	blood:	n/a	n/a
13	CCNT2	chr12:120427574-120427848	K562	blood:	n/a	n/a
14	CCNT2	chr12:120426485-120427334	K562	blood:	n/a	chr12:120426959-120426968 chr12:120426571-120426580
15	CEBPB	chr12:120426536-120426634	K562	blood:	n/a	n/a
16	CEBPB	chr12:120426848-120426936	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr12:120426321-120426993	Hela-S3	cervix:	n/a	n/a
18	CHD1	chr12:120427197-120427204	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr12:120427563-120428019	IMR90	lung:	n/a	n/a
20	CHD1	chr12:120427699-120427889	GM12878	blood:	n/a	n/a
21	CHD1	chr12:120427711-120427882	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr12:120426371-120427841	Hela-S3	cervix:	n/a	chr12:120426960-120426970 chr12:120426965-120426975 chr12:120426992-120427002 chr12:120427435-120427445
23	CHD2	chr12:120427300-120427421	HepG2	liver:	n/a	n/a
24	CHD2	chr12:120426789-120426904	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr12:120427635-120427848	GM12878	blood:	n/a	n/a
26	CREB1	chr12:120427577-120427805	A549	lung:	n/a	n/a
27	CREB1	chr12:120426373-120427938	HepG2	liver:	n/a	n/a
28	CREB1	chr12:120426488-120427436	A549	lung:	n/a	n/a
29	CTCF	chr12:120426320-120426470	HMEC	breast:	n/a	n/a
30	CTCF	chr12:120427140-120427290	GM12866	blood:	n/a	n/a
31	CTCF	chr12:120426400-120426550	GM12864	blood:	n/a	n/a
32	CTCF	chr12:120427140-120427290	HMEC	breast:	n/a	n/a
33	CTCF	chr12:120426281-120426554	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:120426708-120426922	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:120426784-120426931	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:120426360-120426510	GM12873	blood:	n/a	n/a
37	CTCF	chr12:120426360-120426510	HCT-116	colon:	n/a	n/a
38	CTCF	chr12:120426275-120426531	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr12:120426337-120426491	GM10248	blood:	n/a	n/a
40	CTCF	chr12:120426433-120426530	GM20000	blood:	n/a	n/a
41	CTCF	chr12:120426300-120426450	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr12:120426843-120427064	Spleen_OC	spleen:	n/a	chr12:120427019-120427032
43	CTCF	chr12:120426260-120426410	HAc	cerebellar:	n/a	n/a
44	CTCF	chr12:120426333-120426462	LNCaP	prostate:	n/a	n/a
45	CTCF	chr12:120426360-120426510	NHEK	skin:	n/a	n/a
46	CTCF	chr12:120426300-120426450	RPTEC	kidney:	n/a	n/a
47	CTCF	chr12:120426335-120426465	LNCaP	prostate:	n/a	n/a
48	CTCF	chr12:120426400-120426550	HCT-116	colon:	n/a	n/a
49	CTCF	chr12:120426225-120426536	A549	lung:	n/a	n/a
50	CTCF	chr12:120426771-120426915	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120427178-120427228	HAEpiC	amniotic membrane:	n/a
2	chr12:120427667-120427717	AG09319	gingival:	n/a
3	chr12:120428028-120428078	BJ	skin:	n/a
4	chr12:120427178-120427228	HCT-116	colon:	n/a
5	chr12:120426550-120426600	GM12878	blood:	n/a
6	chr12:120428028-120428078	AG04450	lung:	fetal
7	chr12:120428313-120428363	A549	lung:	n/a
8	chr12:120426550-120426600	AoSMC	blood vessel:	n/a
9	chr12:120427667-120427717	ovcar-3	ovarian:	n/a
10	chr12:120428313-120428363	IMR90	lung:	fetal
11	chr12:120427667-120427717	CMK	blood:	n/a
12	chr12:120427667-120427717	HCPEpiC	choroid plexus:	n/a
13	chr12:120426784-120426834	ECC-1	luminal epithelium:	n/a
14	chr12:120427182-120427232	HepG2	liver:	n/a
15	chr12:120428313-120428363	HL-60	blood:	n/a
16	chr12:120427667-120427717	IMR90	lung:	fetal
17	chr12:120428313-120428363	GM12878	blood:	n/a
18	chr12:120426529-120426579	HMEC	breast:	n/a
19	chr12:120426529-120426579	SK-N-MC	brain:	n/a
20	chr12:120426618-120426668	HCT-116	colon:	n/a
21	chr12:120426529-120426579	HRE	kidney:	n/a
22	chr12:120426784-120426834	RPTEC	kidney:	n/a
23	chr12:120428028-120428078	Hela-S3	cervix:	n/a
24	chr12:120428065-120428115	HRPEpiC	eye:	n/a
25	chr12:120427667-120427717	GM12878	blood:	n/a
26	chr12:120426784-120426834	PFSK-1	brain:	n/a
27	chr12:120427178-120427228	BJ	skin:	n/a
28	chr12:120428065-120428115	RPTEC	kidney:	n/a
29	chr12:120426550-120426600	SAEC	small airway:	n/a
30	chr12:120426784-120426834	GM06990	blood:	n/a
31	chr12:120426618-120426668	NHDF-neo	bronchial:	n/a
32	chr12:120427182-120427232	NH-A	brain:	n/a
33	chr12:120428028-120428078	SAEC	small airway:	n/a
34	chr12:120426784-120426834	GM12878	blood:	n/a
35	chr12:120426784-120426834	HRE	kidney:	n/a
36	chr12:120428028-120428078	Caco-2	colon:	n/a
37	chr12:120427182-120427232	T-47D	breast:	n/a
38	chr12:120428313-120428363	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:120427178-120427228	HepG2	liver:	n/a
40	chr12:120428065-120428115	GM12891	blood:	n/a
41	chr12:120427182-120427232	ovcar-3	ovarian:	n/a
42	chr12:120427182-120427232	Jurkat	blood:	n/a
43	chr12:120428313-120428363	HepG2	liver:	n/a
44	chr12:120427182-120427232	U87	brain:	n/a
45	chr12:120426618-120426668	HEK293	kidney:	embryo
46	chr12:120428313-120428363	ECC-1	luminal epithelium:	n/a
47	chr12:120426618-120426668	PrEC	prostate:	n/a
48	chr12:120428028-120428078	SK-N-MC	brain:	n/a
49	chr12:120426550-120426600	GM06990	blood:	n/a
50	chr12:120428065-120428115	Caco-2	colon:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120426620..120429059-chr12:120727400..120730169,3	MCF-7	breast:
2	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
3	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
4	chr12:120425977..120426934-chr12:120517209..120518213,3	MCF-7	breast:
5	chr12:120426261..120428229-chr12:120638078..120640091,2	MCF-7	breast:
6	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
7	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
8	chr12:120426492..120427432-chr12:120524501..120525382,2	K562	blood:
9	chr12:120425404..120428200-chr12:120435927..120438924,2	K562	blood:
10	chr12:120420772..120424084-chr12:120424860..120426963,3	MCF-7	breast:
11	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
12	chr12:120427086..120431307-chr12:120435070..120439124,5	MCF-7	breast:
13	chr12:120420153..120423656-chr12:120424541..120427660,4	MCF-7	breast:
14	chr12:120425546..120427435-chr12:120477512..120479258,2	MCF-7	breast:
15	chr12:120426002..120427624-chr12:120517341..120518989,2	MCF-7	breast:
16	chr12:120428276..120430346-chr12:120637372..120639264,2	MCF-7	breast:
17	chr12:120425735..120427312-chr12:120553344..120556119,2	MCF-7	breast:
18	chr12:120426982..120427577-chr19:56825701..56826223,2	Hela-S3	cervix:
19	chr12:120424652..120426403-chr12:120728776..120730834,2	MCF-7	breast:
20	chr12:120426746..120427474-chr12:133338037..133338792,2	HCT-116	colon:
21	chr12:120427745..120429727-chr12:120729725..120731576,2	MCF-7	breast:
22	chr12:120425840..120426796-chr20:19097523..19098151,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC64	TF binding region
CCDC64	CpG island
ENSG00000202538	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000176915	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000122966	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544730458	chr12:120426226-120426227	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs368565737	chr12:120426231-120426232	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs533181265	chr12:120426244-120426245	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs558889203	chr12:120426249-120426250	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs146719370	chr12:120426254-120426255	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546842034	chr12:120426363-120426364	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs113872956	chr12:120426378-120426379	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs76809773	chr12:120426459-120426460	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs549255790	chr12:120426462-120426463	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs182832057	chr12:120426466-120426467	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs7980464	chr12:120426469-120426470	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551076333	chr12:120426556-120426557	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs143895026	chr12:120426578-120426579	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs533627206	chr12:120426620-120426621	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs553192597	chr12:120426630-120426631	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs573383339	chr12:120426634-120426635	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs148606147	chr12:120426651-120426652	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs186431259	chr12:120426697-120426698	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs575567940	chr12:120426774-120426775	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs113195038	chr12:120426781-120426782	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs79878785	chr12:120426826-120426827	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs564449072	chr12:120426878-120426879	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs578167054	chr12:120426898-120426899	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs117426293	chr12:120426905-120426906	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs560134979	chr12:120426946-120426947	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs529036769	chr12:120426952-120426953	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs549016583	chr12:120426955-120426956	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs562767456	chr12:120427008-120427009	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs531480554	chr12:120427040-120427041	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs7306494	chr12:120427075-120427076	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs10603226	chr12:120427097-120427098	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs201855386	chr12:120427266-120427267	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs71745796	chr12:120427267-120427268	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs112694456	chr12:120427284-120427285	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs140135341	chr12:120427384-120427385	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs547424498	chr12:120427394-120427395	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs566963586	chr12:120427495-120427496	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs111440037	chr12:120427574-120427575	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs536015945	chr12:120427587-120427588	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs555811021	chr12:120427720-120427721	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs575918655	chr12:120427737-120427738	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs538521402	chr12:120427750-120427751	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs558221602	chr12:120427752-120427753	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs11614571	chr12:120427787-120427788	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs578066392	chr12:120427816-120427817	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs201470199	chr12:120427917-120427918	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs567765976	chr12:120427951-120427952	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs540732478	chr12:120427963-120427964	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs560592174	chr12:120427990-120427991	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs573768778	chr12:120428029-120428030	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 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
Autism	22495311	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
Sudden cardiac death	19188705	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	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120424600-120426200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr12:120425600-120426200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:120425600-120426200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:120425800-120426200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr12:120425800-120426200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:120425800-120426200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr12:120425800-120426200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:120425800-120426200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:120425800-120426200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:120425800-120426200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:120425800-120426200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:120425800-120426200	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:120425800-120426200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:120425800-120426200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:120425800-120426200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:120425800-120426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:120425800-120426200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:120425800-120426200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:120425800-120426200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:120425800-120426200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:120425800-120426200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr12:120425800-120426200	Bivalent Enhancer	Dnd41	blood
23	chr12:120425800-120426200	Enhancers	Hela-S3	cervix
24	chr12:120425800-120426200	Enhancers	HepG2	liver
25	chr12:120425800-120426200	Enhancers	HMEC	breast
26	chr12:120425800-120426200	Enhancers	K562	blood
27	chr12:120425800-120426400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:120425800-120426400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr12:120425800-120426400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:120426000-120426200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:120426000-120426200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:120426000-120426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:120426000-120426200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:120426000-120426200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:120426000-120426200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
36	chr12:120426000-120426200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:120426000-120426200	Enhancers	Primary B cells from cord blood	blood
38	chr12:120426000-120426200	Enhancers	Primary T cells from cord blood	blood
39	chr12:120426000-120426200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:120426000-120426200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:120426000-120426200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:120426000-120426200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:120426000-120426200	Enhancers	Brain Angular Gyrus	brain
44	chr12:120426000-120426200	Active TSS	Brain Anterior Caudate	brain
45	chr12:120426000-120426200	Enhancers	Colonic Mucosa	Colon
46	chr12:120426000-120426200	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:120426000-120426200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
48	chr12:120426000-120426200	Active TSS	Fetal Brain Female	brain
49	chr12:120426000-120426200	Enhancers	Fetal Intestine Large	intestine
50	chr12:120426000-120426200	Enhancers	Fetal Intestine Small	intestine

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