Variant report

Variant	esv3506414
Chromosome Location	chr12:123754849-123757572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:675)
CpG islands
(count:915)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:675 , 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	chr12:123756709-123756904	K562	blood:	n/a	n/a
2	ATF2	chr12:123754580-123755012	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:123756507-123757008	A549	lung:	n/a	chr12:123756611-123756624 chr12:123756617-123756630 chr12:123756618-123756631
4	BCLAF1	chr12:123755513-123755995	GM12878	blood:	n/a	chr12:123755547-123755560
5	BHLHE40	chr12:123755217-123755827	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
6	BHLHE40	chr12:123755245-123755399	K562	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
7	BHLHE40	chr12:123756652-123756745	K562	blood:	n/a	n/a
8	BHLHE40	chr12:123755744-123755807	K562	blood:	n/a	n/a
9	CCNT2	chr12:123755210-123756743	K562	blood:	n/a	chr12:123756527-123756536
10	CEBPD	chr12:123754588-123754876	HepG2	liver:	n/a	n/a
11	CEBPD	chr12:123756213-123756543	HepG2	liver:	n/a	n/a
12	CHD1	chr12:123756638-123757278	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr12:123755843-123755857	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
15	CHD1	chr12:123755675-123755869	GM12878	blood:	n/a	n/a
16	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr12:123756496-123756965	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr12:123755700-123756031	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr12:123756599-123756999	GM12878	blood:	n/a	n/a
20	CREB1	chr12:123756203-123756583	A549	lung:	n/a	n/a
21	CREB1	chr12:123755518-123755914	A549	lung:	n/a	n/a
22	CREB1	chr12:123755917-123756175	A549	lung:	n/a	n/a
23	CTCF	chr12:123755700-123755850	NHEK	skin:	n/a	chr12:123755750-123755763
24	CTCF	chr12:123755700-123755850	GM12866	blood:	n/a	chr12:123755750-123755763
25	CTCF	chr12:123755612-123755929	A549	lung:	n/a	chr12:123755750-123755763
26	CTCF	chr12:123755700-123755850	GM12865	blood:	n/a	chr12:123755750-123755763
27	CTCF	chr12:123755700-123755850	BJ	skin:	n/a	chr12:123755750-123755763
28	CTCF	chr12:123755632-123755979	H1-hESC	embryonic stem cell:	n/a	chr12:123755750-123755763
29	CTCF	chr12:123755670-123755848	ProgFib	skin:	n/a	chr12:123755750-123755763
30	CTCF	chr12:123755660-123755810	AG04450	lung:	n/a	chr12:123755750-123755763
31	CTCF	chr12:123755704-123755833	MCF-7	breast:	n/a	chr12:123755750-123755763
32	CTCF	chr12:123755680-123755830	HEEpiC	esophagus:	n/a	chr12:123755750-123755763
33	CTCF	chr12:123755024-123755040	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:123755660-123755810	AG09309	skin:	n/a	chr12:123755750-123755763
35	CTCF	chr12:123755700-123755850	HCM	heart:	n/a	chr12:123755750-123755763
36	CTCF	chr12:123755700-123755850	AG09319	gingival:	n/a	chr12:123755750-123755763
37	CTCF	chr12:123755680-123755830	HPF	lung:	n/a	chr12:123755750-123755763
38	CTCF	chr12:123755700-123755850	GM12878	blood:	n/a	chr12:123755750-123755763
39	CTCF	chr12:123755660-123755810	AG09319	gingival:	n/a	chr12:123755750-123755763
40	CTCF	chr12:123755720-123755870	HPAF	blood vessel:	n/a	chr12:123755750-123755763
41	CTCF	chr12:123755675-123755849	HepG2	liver:	n/a	chr12:123755750-123755763
42	CTCF	chr12:123755700-123755850	GM06990	blood:	n/a	chr12:123755750-123755763
43	CTCF	chr12:123754700-123754850	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr12:123755720-123755870	K562	blood:	n/a	chr12:123755750-123755763
45	CTCF	chr12:123755680-123755830	BJ	skin:	n/a	chr12:123755750-123755763
46	CTCF	chr12:123755700-123755850	SAEC	small airway:	n/a	chr12:123755750-123755763
47	CTCF	chr12:123755260-123755410	NHLF	lung:	n/a	n/a
48	CTCF	chr12:123755680-123755830	GM12864	blood:	n/a	chr12:123755750-123755763
49	CTCF	chr12:123755680-123755830	GM12874	blood:	n/a	chr12:123755750-123755763
50	CTCF	chr12:123755680-123755830	Hela-S3	cervix:	n/a	chr12:123755750-123755763

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123756945-123756995	HRPEpiC	eye:	n/a
2	chr12:123757018-123757068	MCF10A-Er-Src	breast:	n/a
3	chr12:123757070-123757120	SAEC	small airway:	n/a
4	chr12:123756739-123756789	NB4	blood:	n/a
5	chr12:123756755-123756805	MCF-7	breast:	n/a
6	chr12:123757474-123757524	U87	brain:	n/a
7	chr12:123757070-123757120	ECC-1	luminal epithelium:	n/a
8	chr12:123757413-123757463	HUVEC	blood vessel:	n/a
9	chr12:123757536-123757586	HAEpiC	amniotic membrane:	n/a
10	chr12:123756791-123756841	HCF	heart:	n/a
11	chr12:123756739-123756789	HCF	heart:	n/a
12	chr12:123757070-123757120	AoSMC	blood vessel:	n/a
13	chr12:123755018-123755068	BJ	skin:	n/a
14	chr12:123755018-123755068	AG04450	lung:	fetal
15	chr12:123757536-123757586	SK-N-SH	brain:	n/a
16	chr12:123757536-123757586	HCT-116	colon:	n/a
17	chr12:123756755-123756805	GM06990	blood:	n/a
18	chr12:123756318-123756368	GM19239	blood:	n/a
19	chr12:123757337-123757387	HNPCEpiC	eye:	n/a
20	chr12:123755247-123755297	BJ	skin:	n/a
21	chr12:123756720-123756770	GM12891	blood:	n/a
22	chr12:123756755-123756805	HAEpiC	amniotic membrane:	n/a
23	chr12:123755018-123755068	ovcar-3	ovarian:	n/a
24	chr12:123757337-123757387	PFSK-1	brain:	n/a
25	chr12:123756791-123756841	K562	blood:	n/a
26	chr12:123757536-123757586	HMEC	breast:	n/a
27	chr12:123756945-123756995	Hepatocyte	liver:	n/a
28	chr12:123757413-123757463	GM06990	blood:	n/a
29	chr12:123755247-123755297	GM12892	blood:	n/a
30	chr12:123755775-123755825	SK-N-MC	brain:	n/a
31	chr12:123756791-123756841	HCT-116	colon:	n/a
32	chr12:123757070-123757120	HUVEC	blood vessel:	n/a
33	chr12:123756755-123756805	SK-N-SH	brain:	n/a
34	chr12:123756318-123756368	PFSK-1	brain:	n/a
35	chr12:123757337-123757387	BJ	skin:	n/a
36	chr12:123756720-123756770	NHDF-neo	bronchial:	n/a
37	chr12:123757018-123757068	AoSMC	blood vessel:	n/a
38	chr12:123757337-123757387	GM19239	blood:	n/a
39	chr12:123755018-123755068	H1-hESC	embryonic stem cell:	embryo
40	chr12:123757474-123757524	NH-A	brain:	n/a
41	chr12:123756318-123756368	NHDF-neo	bronchial:	n/a
42	chr12:123757337-123757387	H1-hESC	embryonic stem cell:	embryo
43	chr12:123757413-123757463	HAEpiC	amniotic membrane:	n/a
44	chr12:123757018-123757068	HCM	heart:	n/a
45	chr12:123756945-123756995	AG10803	skin:	n/a
46	chr12:123757474-123757524	HRE	kidney:	n/a
47	chr12:123755775-123755825	NHBE	bronchial:	n/a
48	chr12:123757337-123757387	NB4	blood:	n/a
49	chr12:123757070-123757120	SK-N-SH	brain:	n/a
50	chr12:123755775-123755825	HCF	heart:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
2	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
3	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
4	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
5	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
6	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
7	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
8	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
9	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
10	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
11	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
12	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
13	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:
14	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
15	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
16	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
17	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
18	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
19	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
20	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
21	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
22	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:
23	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
24	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
25	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
26	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
27	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
28	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
29	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
30	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
31	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
32	chr12:123717152..123717945-chr12:123754812..123755383,2	MCF-7	breast:
33	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
34	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
35	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
36	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
37	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDK2AP1	TF binding region
CDK2AP1	CpG island
ENSG00000111364	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000119705	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000270113	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000199845	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000100601	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000184209	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547988563	chr12:123754857-123754858	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs183307062	chr12:123754884-123754885	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs533543440	chr12:123754895-123754896	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs138006715	chr12:123754908-123754909	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs370727053	chr12:123754946-123754947	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs376904697	chr12:123754974-123754975	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs570355949	chr12:123755018-123755019	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs117661481	chr12:123755033-123755034	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs11057223	chr12:123755055-123755056	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs557886717	chr12:123755067-123755068	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs534774135	chr12:123755074-123755075	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs553033442	chr12:123755089-123755090	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs554397969	chr12:123755104-123755105	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs375838565	chr12:123755120-123755121	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs571935032	chr12:123755129-123755130	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs539243026	chr12:123755141-123755142	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs11057224	chr12:123755179-123755180	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs576214525	chr12:123755205-123755206	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs147866681	chr12:123755218-123755219	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs553544450	chr12:123755235-123755236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs573568509	chr12:123755241-123755242	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs577806864	chr12:123755281-123755282	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs559487349	chr12:123755295-123755296	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs188703454	chr12:123755309-123755310	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs545578878	chr12:123755328-123755329	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs564013972	chr12:123755331-123755332	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs12308009	chr12:123755342-123755343	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs531081876	chr12:123755403-123755404	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs374172940	chr12:123755404-123755405	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs367785413	chr12:123755449-123755450	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs139263519	chr12:123755464-123755465	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs567587901	chr12:123755499-123755500	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs150002761	chr12:123755511-123755512	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs545699071	chr12:123755585-123755586	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs546734129	chr12:123755621-123755622	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs571395936	chr12:123755683-123755684	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs11057225	chr12:123755693-123755694	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs539257093	chr12:123755924-123755925	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs193010619	chr12:123755951-123755952	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs145237336	chr12:123755970-123755971	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	mRNA abundance
41	rs185878457	chr12:123756001-123756002	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	mRNA abundance
42	rs555616094	chr12:123756053-123756054	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs113079938	chr12:123756278-123756279	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs573602071	chr12:123756350-123756351	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs541018655	chr12:123756409-123756410	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs189136922	chr12:123756493-123756494	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs577767590	chr12:123756531-123756532	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs112277826	chr12:123756566-123756567	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs545638034	chr12:123756604-123756605	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs563696187	chr12:123756764-123756765	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
3	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:123753200-123755000	Flanking Active TSS	NH-A	brain
13	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr12:123753600-123755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
20	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:123753800-123755200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:123754000-123755000	Active TSS	HepG2	liver
29	chr12:123754000-123755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:123754000-123755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:123754000-123755400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123754000-123755400	Flanking Active TSS	Placenta	Placenta
33	chr12:123754000-123755600	Active TSS	Fetal Kidney	kidney
34	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
44	chr12:123754000-123756800	Active TSS	Gastric	stomach
45	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:123754000-123757200	Active TSS	Ovary	ovary
49	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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