Variant report

Variant	esv3371786
Chromosome Location	chr12:123753799-123757997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:861)
CpG islands
(count:1224)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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	ARID3A	chr12:123754668-123754811	HepG2	liver:	n/a	n/a
3	ATF2	chr12:123754580-123755012	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:123753966-123754199	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:123756507-123757008	A549	lung:	n/a	chr12:123756611-123756624 chr12:123756617-123756630 chr12:123756618-123756631
6	BCLAF1	chr12:123755513-123755995	GM12878	blood:	n/a	chr12:123755547-123755560
7	BHLHE40	chr12:123755217-123755827	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
8	BHLHE40	chr12:123755245-123755399	K562	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
9	BHLHE40	chr12:123756652-123756745	K562	blood:	n/a	n/a
10	BHLHE40	chr12:123755744-123755807	K562	blood:	n/a	n/a
11	CCNT2	chr12:123755210-123756743	K562	blood:	n/a	chr12:123756527-123756536
12	CEBPD	chr12:123756213-123756543	HepG2	liver:	n/a	n/a
13	CEBPD	chr12:123754588-123754876	HepG2	liver:	n/a	n/a
14	CHD1	chr12:123755675-123755869	GM12878	blood:	n/a	n/a
15	CHD1	chr12:123753648-123753843	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
17	CHD1	chr12:123754435-123754580	GM12878	blood:	n/a	n/a
18	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr12:123755843-123755857	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr12:123756638-123757278	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr12:123756496-123756965	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr12:123756599-123756999	GM12878	blood:	n/a	n/a
23	CHD2	chr12:123753973-123754491	GM12878	blood:	n/a	chr12:123754235-123754245
24	CHD2	chr12:123753955-123754313	H1-hESC	embryonic stem cell:	n/a	chr12:123754235-123754245
25	CHD2	chr12:123754032-123754185	HepG2	liver:	n/a	n/a
26	CHD2	chr12:123755700-123756031	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr12:123756203-123756583	A549	lung:	n/a	n/a
28	CREB1	chr12:123755917-123756175	A549	lung:	n/a	n/a
29	CREB1	chr12:123755518-123755914	A549	lung:	n/a	n/a
30	CREB1	chr12:123753853-123754548	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr12:123754180-123754330	GM12878	blood:	n/a	n/a
32	CTCF	chr12:123755654-123755869	MCF-7	breast:	n/a	chr12:123755750-123755763
33	CTCF	chr12:123755260-123755410	NHLF	lung:	n/a	n/a
34	CTCF	chr12:123754123-123754391	IMR90	lung:	n/a	n/a
35	CTCF	chr12:123754120-123754270	GM12871	blood:	n/a	n/a
36	CTCF	chr12:123755700-123755850	MCF-7	breast:	n/a	chr12:123755750-123755763
37	CTCF	chr12:123754066-123754437	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr12:123755700-123755850	GM12867	blood:	n/a	chr12:123755750-123755763
39	CTCF	chr12:123754160-123754310	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr12:123754140-123754290	HMF	breast:	n/a	n/a
41	CTCF	chr12:123755569-123755904	A549	lung:	n/a	chr12:123755750-123755763
42	CTCF	chr12:123755409-123756153	A549	lung:	n/a	chr12:123755750-123755763
43	CTCF	chr12:123755700-123755850	GM12872	blood:	n/a	chr12:123755750-123755763
44	CTCF	chr12:123755700-123755850	HA-sp	spinal cord:	n/a	chr12:123755750-123755763
45	CTCF	chr12:123755720-123755870	HepG2	liver:	n/a	chr12:123755750-123755763
46	CTCF	chr12:123755400-123755550	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:123754700-123754850	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr12:123754040-123754190	BJ	skin:	n/a	n/a
49	CTCF	chr12:123755670-123755856	Fibrobl	skin:	n/a	chr12:123755750-123755763
50	CTCF	chr12:123754120-123754270	SK-N-SH_RA	brain:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123754235-123754285	SKMC	muscle:	n/a
2	chr12:123757474-123757524	H1-hESC	embryonic stem cell:	embryo
3	chr12:123756755-123756805	Caco-2	colon:	n/a
4	chr12:123756739-123756789	SKMC	muscle:	n/a
5	chr12:123754235-123754285	SKMC	muscle:	n/a
6	chr12:123757474-123757524	H1-hESC	embryonic stem cell:	embryo
7	chr12:123756755-123756805	Caco-2	colon:	n/a
8	chr12:123756739-123756789	SKMC	muscle:	n/a
9	chr12:123757018-123757068	Caco-2	colon:	n/a
10	chr12:123757337-123757387	HEK293	kidney:	embryo
11	chr12:123757860-123757910	GM12891	blood:	n/a
12	chr12:123755247-123755297	AG09319	gingival:	n/a
13	chr12:123755775-123755825	BE2_C	brain:	n/a
14	chr12:123756720-123756770	GM12892	blood:	n/a
15	chr12:123756739-123756789	T-47D	breast:	n/a
16	chr12:123757070-123757120	MCF-7	breast:	n/a
17	chr12:123757860-123757910	GM12878	blood:	n/a
18	chr12:123756739-123756789	NHDF-neo	bronchial:	n/a
19	chr12:123756791-123756841	Caco-2	colon:	n/a
20	chr12:123756945-123756995	HRPEpiC	eye:	n/a
21	chr12:123754235-123754285	HRPEpiC	eye:	n/a
22	chr12:123756720-123756770	GM12878	blood:	n/a
23	chr12:123756318-123756368	ECC-1	luminal epithelium:	n/a
24	chr12:123756720-123756770	PANC-1	pancreas:	n/a
25	chr12:123754071-123754121	Hepatocyte	liver:	n/a
26	chr12:123757536-123757586	AoSMC	blood vessel:	n/a
27	chr12:123756945-123756995	NHDF-neo	bronchial:	n/a
28	chr12:123757018-123757068	Hela-S3	cervix:	n/a
29	chr12:123755018-123755068	MCF-7	breast:	n/a
30	chr12:123756318-123756368	A549	lung:	n/a
31	chr12:123757860-123757910	ProgFib	skin:	n/a
32	chr12:123757413-123757463	HRCEpiC	kidney:	n/a
33	chr12:123757070-123757120	HMEC	breast:	n/a
34	chr12:123757536-123757586	Hepatocyte	liver:	n/a
35	chr12:123757474-123757524	NB4	blood:	n/a
36	chr12:123755775-123755825	HepG2	liver:	n/a
37	chr12:123756739-123756789	ovcar-3	ovarian:	n/a
38	chr12:123755247-123755297	GM06990	blood:	n/a
39	chr12:123756739-123756789	HUVEC	blood vessel:	n/a
40	chr12:123754071-123754121	HRE	kidney:	n/a
41	chr12:123755247-123755297	HCT-116	colon:	n/a
42	chr12:123756755-123756805	PrEC	prostate:	n/a
43	chr12:123754071-123754121	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:123757474-123757524	AG09309	skin:	n/a
45	chr12:123757337-123757387	HepG2	liver:	n/a
46	chr12:123756739-123756789	RPTEC	kidney:	n/a
47	chr12:123756739-123756789	ProgFib	skin:	n/a
48	chr12:123756739-123756789	U87	brain:	n/a
49	chr12:123755775-123755825	NT2-D1	testis:	n/a
50	chr12:123754235-123754285	AG09319	gingival:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:
2	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
3	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
4	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
5	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
6	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
7	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
8	chr12:123752887..123754431-chr12:123868251..123870818,2	K562	blood:
9	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
10	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:
11	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
12	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
13	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
14	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
15	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
16	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
17	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
18	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
19	chr12:123717152..123717945-chr12:123754812..123755383,2	MCF-7	breast:
20	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
21	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
22	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
23	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
24	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
25	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
26	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
27	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
28	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
29	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
30	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
31	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
32	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
33	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
34	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
35	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
36	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
37	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
38	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:

No data

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

Extended variants
information (count: 117 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79670526	chr12:123753811-123753812	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs567308269	chr12:123753828-123753829	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs115904911	chr12:123753853-123753854	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs79739359	chr12:123753875-123753876	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs191861586	chr12:123753891-123753892	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs529530360	chr12:123753992-123753993	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs547629646	chr12:123753999-123754000	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs567218612	chr12:123754028-123754029	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs566399675	chr12:123754045-123754046	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs540106020	chr12:123754063-123754064	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs552971901	chr12:123754069-123754070	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs570093848	chr12:123754085-123754086	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs373366617	chr12:123754101-123754102	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs555870590	chr12:123754103-123754104	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs574010963	chr12:123754146-123754147	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs539344405	chr12:123754176-123754177	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs147201143	chr12:123754202-123754203	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs140598041	chr12:123754219-123754220	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs572024856	chr12:123754290-123754291	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs545725686	chr12:123754406-123754407	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs564014689	chr12:123754434-123754435	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs576033165	chr12:123754438-123754439	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs35602370	chr12:123754453-123754454	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs543039275	chr12:123754531-123754532	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs561828773	chr12:123754613-123754614	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs34172986	chr12:123754683-123754684	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs369336691	chr12:123754713-123754714	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs573254775	chr12:123754728-123754729	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs545182171	chr12:123754800-123754801	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs199926043	chr12:123754801-123754802	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123739200-123754200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:123742400-123754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:123742400-123754600	Weak transcription	Small Intestine	intestine
4	chr12:123743000-123754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:123743400-123754000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:123744000-123753800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:123744000-123753800	Weak transcription	K562	blood
8	chr12:123745400-123754000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:123746600-123754000	Weak transcription	Fetal Kidney	kidney
10	chr12:123747000-123754400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:123749200-123753800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:123749400-123754600	Enhancers	Fetal Brain Male	brain
13	chr12:123750400-123753800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:123750600-123753800	Weak transcription	Hela-S3	cervix
15	chr12:123751000-123753800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:123751400-123753800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:123751400-123753800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:123751400-123753800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:123751800-123754200	Weak transcription	Aorta	Aorta
20	chr12:123751800-123754200	Flanking Active TSS	HSMMtube	muscle
21	chr12:123752000-123754000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:123752000-123754000	Flanking Active TSS	Fetal Brain Female	brain
23	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:123752200-123753800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:123752200-123753800	Enhancers	NHDF-Ad	bronchial
26	chr12:123752200-123753800	Weak transcription	NHEK	skin
27	chr12:123752200-123754000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:123752200-123754000	Enhancers	Right Ventricle	heart
29	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:123752400-123753800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr12:123752400-123754000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:123752400-123754000	Enhancers	Fetal Lung	lung
35	chr12:123752400-123754000	Enhancers	Placenta	Placenta
36	chr12:123752400-123754000	Enhancers	Left Ventricle	heart
37	chr12:123752400-123754200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr12:123752400-123754200	Flanking Active TSS	HSMM	muscle
39	chr12:123752400-123754400	Enhancers	Lung	lung
40	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:123752600-123754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:123752600-123754000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:123752600-123754000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:123752600-123754000	Flanking Active TSS	Thymus	Thymus
47	chr12:123752600-123754200	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:123752600-123754400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:123752600-123754600	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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