Variant report

Variant	esv3321746
Chromosome Location	chr12:57521935-57524033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:57521812-57522044	HepG2	liver:	n/a	n/a
2	BACH1	chr12:57522730-57522891	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr12:57521186-57522176	K562	blood:	n/a	chr12:57521678-57521687 chr12:57521684-57521693
4	CEBPB	chr12:57522598-57522862	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:57523651-57524056	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:57523848-57523886	K562	blood:	n/a	n/a
7	CEBPB	chr12:57523774-57524009	A549	lung:	n/a	n/a
8	CEBPD	chr12:57521067-57522492	HepG2	liver:	n/a	n/a
9	CEBPD	chr12:57521941-57522266	HepG2	liver:	n/a	n/a
10	CHD2	chr12:57522683-57522916	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr12:57521877-57521958	GM12878	blood:	n/a	n/a
12	CREB1	chr12:57521391-57522342	A549	lung:	n/a	n/a
13	CTCF	chr12:57522009-57522153	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr12:57520580-57522140	A549	lung:	n/a	chr12:57521155-57521173 chr12:57521158-57521171
15	CTCF	chr12:57520620-57522398	SK-N-SH	brain:	n/a	chr12:57521155-57521173 chr12:57521158-57521171
16	CTCF	chr12:57523520-57523670	NHEK	skin:	n/a	n/a
17	E2F4	chr12:57522086-57522206	MCF10A-Er-Src	breast:	n/a	chr12:57522120-57522128 chr12:57522132-57522141
18	EGR1	chr12:57521462-57522198	K562	blood:	n/a	chr12:57521684-57521699 chr12:57521685-57521698 chr12:57521686-57521696 chr12:57521653-57521663 chr12:57521650-57521663 chr12:57521544-57521554 chr12:57521646-57521668 chr12:57522132-57522141
19	EGR1	chr12:57521378-57522193	K562	blood:	n/a	chr12:57521684-57521699 chr12:57521685-57521698 chr12:57521686-57521696 chr12:57521653-57521663 chr12:57521650-57521663 chr12:57521544-57521554 chr12:57521646-57521668 chr12:57522132-57522141
20	ELF1	chr12:57521627-57522158	GM12878	blood:	n/a	chr12:57521932-57521944
21	EP300	chr12:57521979-57522117	HepG2	liver:	n/a	n/a
22	FOS	chr12:57523715-57523965	MCF10A-Er-Src	breast:	n/a	chr12:57523857-57523867 chr12:57523857-57523867
23	FOS	chr12:57523701-57523990	MCF10A-Er-Src	breast:	n/a	chr12:57523857-57523867 chr12:57523857-57523867
24	FOS	chr12:57523688-57524047	MCF10A-Er-Src	breast:	n/a	chr12:57523857-57523867 chr12:57523857-57523867
25	FOS	chr12:57523696-57524020	MCF10A-Er-Src	breast:	n/a	chr12:57523857-57523867 chr12:57523857-57523867
26	FOSL2	chr12:57521047-57522069	A549	lung:	n/a	chr12:57521548-57521557 chr12:57521487-57521497 chr12:57521488-57521497 chr12:57521487-57521496
27	FOXA1	chr12:57520934-57522105	HepG2	liver:	n/a	n/a
28	GTF2F1	chr12:57522631-57522960	H1-hESC	embryonic stem cell:	n/a	n/a
29	HCFC1	chr12:57521900-57522032	K562	blood:	n/a	n/a
30	HDAC2	chr12:57520889-57522202	MCF-7	breast:	n/a	chr12:57521312-57521320
31	HDAC2	chr12:57520975-57522271	HepG2	liver:	n/a	chr12:57521312-57521320
32	HEY1	chr12:57520762-57522457	HepG2	liver:	n/a	n/a
33	HEY1	chr12:57521890-57522198	K562	blood:	n/a	n/a
34	HEY1	chr12:57521073-57522167	HepG2	liver:	n/a	n/a
35	HMGN3	chr12:57521431-57522172	K562	blood:	n/a	n/a
36	HNF4A	chr12:57520962-57521974	HepG2	liver:	n/a	chr12:57521754-57521776 chr12:57521256-57521268 chr12:57521255-57521268 chr12:57521254-57521269 chr12:57521256-57521268 chr12:57521313-57521328
37	IRF1	chr12:57520986-57522086	K562	blood:	n/a	chr12:57521680-57521694 chr12:57521654-57521668
38	JUN	chr12:57520178-57522393	K562	blood:	n/a	chr12:57521548-57521557 chr12:57521487-57521497 chr12:57521488-57521497 chr12:57521487-57521496
39	JUND	chr12:57522726-57522882	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr12:57521037-57522207	K562	blood:	n/a	chr12:57521486-57521497 chr12:57521548-57521557 chr12:57521487-57521497 chr12:57521488-57521497 chr12:57521487-57521496
41	JUND	chr12:57522590-57523028	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr12:57521259-57522107	A549	lung:	n/a	chr12:57521486-57521497 chr12:57521548-57521557 chr12:57521487-57521497 chr12:57521488-57521497 chr12:57521487-57521496
43	MAFK	chr12:57523811-57523968	HepG2	liver:	n/a	chr12:57523829-57523845
44	MAX	chr12:57522041-57522098	Hela-S3	cervix:	n/a	n/a
45	MAX	chr12:57522128-57523032	H1-hESC	embryonic stem cell:	n/a	chr12:57522731-57522740
46	MAX	chr12:57520781-57522270	HepG2	liver:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
47	MAX	chr12:57520788-57522383	ECC-1	luminal epithelium:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
48	MAX	chr12:57520874-57522489	A549	lung:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
49	MAX	chr12:57520847-57522312	MCF-7	breast:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
50	MAX	chr12:57521851-57522217	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57522318-57522368	HL-60	blood:	n/a
2	chr12:57522318-57522368	HL-60	blood:	n/a
3	chr12:57522122-57522172	AG09309	skin:	n/a
4	chr12:57522120-57522170	MCF10A-Er-Src	breast:	n/a
5	chr12:57522290-57522340	Caco-2	colon:	n/a
6	chr12:57522120-57522170	RPTEC	kidney:	n/a
7	chr12:57522813-57522863	MCF10A-Er-Src	breast:	n/a
8	chr12:57522813-57522863	GM06990	blood:	n/a
9	chr12:57522045-57522095	NT2-D1	testis:	n/a
10	chr12:57522318-57522368	Hela-S3	cervix:	n/a
11	chr12:57522813-57522863	U87	brain:	n/a
12	chr12:57522045-57522095	A549	lung:	n/a
13	chr12:57522122-57522172	HCF	heart:	n/a
14	chr12:57522318-57522368	T-47D	breast:	n/a
15	chr12:57522037-57522087	AG09319	gingival:	n/a
16	chr12:57522813-57522863	HCT-116	colon:	n/a
17	chr12:57522318-57522368	PFSK-1	brain:	n/a
18	chr12:57522122-57522172	GM12892	blood:	n/a
19	chr12:57522813-57522863	AG04449	skin:	fetal
20	chr12:57522122-57522172	HEEpiC	esophagus:	n/a
21	chr12:57522318-57522368	HCT-116	colon:	n/a
22	chr12:57522290-57522340	RPTEC	kidney:	n/a
23	chr12:57522813-57522863	H1-hESC	embryonic stem cell:	embryo
24	chr12:57522813-57522863	HCM	heart:	n/a
25	chr12:57522045-57522095	HEEpiC	esophagus:	n/a
26	chr12:57522120-57522170	HCPEpiC	choroid plexus:	n/a
27	chr12:57522122-57522172	BE2_C	brain:	n/a
28	chr12:57522290-57522340	SK-N-SH_RA	brain:	n/a
29	chr12:57522037-57522087	T-47D	breast:	n/a
30	chr12:57522290-57522340	ovcar-3	ovarian:	n/a
31	chr12:57522813-57522863	AG09319	gingival:	n/a
32	chr12:57522318-57522368	HIPEpiC	eye:	n/a
33	chr12:57522290-57522340	IMR90	lung:	fetal
34	chr12:57522045-57522095	Jurkat	blood:	n/a
35	chr12:57522045-57522095	GM12891	blood:	n/a
36	chr12:57522318-57522368	Hepatocyte	liver:	n/a
37	chr12:57522318-57522368	PANC-1	pancreas:	n/a
38	chr12:57522813-57522863	NB4	blood:	n/a
39	chr12:57522037-57522087	A549	lung:	n/a
40	chr12:57522318-57522368	ECC-1	luminal epithelium:	n/a
41	chr12:57522045-57522095	NB4	blood:	n/a
42	chr12:57522290-57522340	CMK	blood:	n/a
43	chr12:57522318-57522368	AG10803	skin:	n/a
44	chr12:57522813-57522863	Jurkat	blood:	n/a
45	chr12:57522045-57522095	HNPCEpiC	eye:	n/a
46	chr12:57522120-57522170	Caco-2	colon:	n/a
47	chr12:57522120-57522170	ProgFib	skin:	n/a
48	chr12:57522045-57522095	SKMC	muscle:	n/a
49	chr12:57522120-57522170	T-47D	breast:	n/a
50	chr12:57522318-57522368	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57479977..57484073-chr12:57519609..57523791,10	MCF-7	breast:
2	chr12:57513705..57517929-chr12:57519571..57523661,4	K562	blood:
3	chr12:57522726..57524274-chr12:57824100..57825642,2	MCF-7	breast:
4	chr12:57503926..57506470-chr12:57520172..57522484,3	MCF-7	breast:
5	chr12:57520592..57523929-chr12:57539571..57544778,8	MCF-7	breast:
6	chr12:57520290..57524994-chr12:57525334..57528665,7	K562	blood:
7	chr12:57520220..57523882-chr12:57558135..57563846,11	MCF-7	breast:
8	chr12:57523914..57525721-chr12:57528681..57531403,2	K562	blood:
9	chr12:57521132..57523355-chr12:57632415..57635225,2	K562	blood:
10	chr11:65274183..65274686-chr12:57521118..57521989,2	Hela-S3	cervix:
11	chr12:57520108..57523293-chr12:57525745..57528597,4	MCF-7	breast:
12	chr12:57520628..57522201-chr12:57566487..57567403,12	MCF-7	breast:
13	chr12:57482277..57484373-chr12:57520375..57523117,3	MCF-7	breast:
14	chr12:57523301..57525619-chr12:57540189..57542955,2	K562	blood:
15	chr12:57117761..57120217-chr12:57520609..57523242,3	K562	blood:
16	chr12:57398801..57400719-chr12:57521892..57524489,2	K562	blood:
17	chr12:57490642..57492474-chr12:57520251..57522738,2	MCF-7	breast:
18	chr12:57504588..57507979-chr12:57520002..57522760,4	K562	blood:
19	chr12:57504130..57505011-chr12:57521671..57522655,2	Hela-S3	cervix:
20	chr11:62608513..62609452-chr12:57521124..57522003,2	Hela-S3	cervix:
21	chr10:134144856..134145717-chr12:57521564..57522064,2	Hela-S3	cervix:
22	chr12:57398801..57400743-chr12:57521280..57524489,3	K562	blood:
23	chr12:57520113..57524524-chr12:57557752..57564598,9	MCF-7	breast:

Variant related genes	Relation type
LRP1	TF binding region
STAT6	TF binding region
LRP1	CpG island
STAT6	CpG island
ENSG00000259125	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000123384	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000263832	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000166860	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000185633	chromatin interactions
ENSG00000258001	chromatin interactions
ENSG00000148814	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559540751	chr12:57521935-57521936	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs527780732	chr12:57522110-57522111	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs549070767	chr12:57522134-57522135	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs534942535	chr12:57522176-57522177	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs112654599	chr12:57522253-57522254	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs567283336	chr12:57522254-57522255	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs138854007	chr12:57522257-57522258	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs79894197	chr12:57522258-57522259	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs35282763	chr12:57522259-57522260	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs571826241	chr12:57522349-57522350	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs12425887	chr12:57522394-57522395	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs367951371	chr12:57522488-57522489	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs554060925	chr12:57522504-57522505	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs113779647	chr12:57522592-57522593	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs535931779	chr12:57522679-57522680	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs371797883	chr12:57522682-57522683	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs554712800	chr12:57522685-57522686	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs571987529	chr12:57522686-57522687	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs35919563	chr12:57522687-57522688	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs576081083	chr12:57522737-57522738	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs543422418	chr12:57522777-57522778	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs139698747	chr12:57522778-57522779	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs112815837	chr12:57522779-57522780	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs34710685	chr12:57522826-57522827	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs36095408	chr12:57522830-57522831	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs183713414	chr12:57522835-57522836	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs577056016	chr12:57522867-57522868	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs59902070	chr12:57522877-57522878	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559238164	chr12:57522884-57522885	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs34660894	chr12:57522894-57522895	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549030273	chr12:57522940-57522941	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs561066440	chr12:57522988-57522989	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs531718683	chr12:57523005-57523006	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs112451707	chr12:57523014-57523015	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs549748950	chr12:57523057-57523058	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs560238420	chr12:57523063-57523064	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs571652675	chr12:57523070-57523071	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs538957377	chr12:57523124-57523125	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs3741580	chr12:57523132-57523133	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs566679212	chr12:57523211-57523212	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs566098071	chr12:57523223-57523224	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs368314678	chr12:57523231-57523232	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs34405742	chr12:57523289-57523290	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs555230776	chr12:57523299-57523300	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs576192824	chr12:57523309-57523310	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs557433849	chr12:57523375-57523376	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs532546138	chr12:57523412-57523413	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs537185834	chr12:57523454-57523455	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs577228432	chr12:57523474-57523475	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs368500796	chr12:57523577-57523578	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57520400-57522200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57520400-57524800	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:57520600-57523600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:57520600-57523600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:57520800-57522200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
6	chr12:57520800-57523200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:57520800-57523600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:57520800-57523600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:57520800-57523800	Active TSS	Brain Hippocampus Middle	brain
10	chr12:57520800-57524000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:57520800-57524000	Active TSS	Fetal Kidney	kidney
12	chr12:57520800-57524800	Active TSS	Right Atrium	heart
13	chr12:57521000-57522000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr12:57521000-57522000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr12:57521000-57522200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:57521000-57522600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:57521000-57522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:57521000-57522600	Active TSS	Fetal Brain Female	brain
19	chr12:57521000-57523400	Active TSS	Aorta	Aorta
20	chr12:57521000-57523400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:57521000-57523600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:57521000-57523600	Active TSS	Pancreas	Pancrea
23	chr12:57521000-57523800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:57521000-57523800	Active TSS	Lung	lung
25	chr12:57521000-57525000	Active TSS	Psoas Muscle	Psoas
26	chr12:57521200-57522000	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr12:57521200-57522200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr12:57521200-57522200	Flanking Bivalent TSS/Enh	Dnd41	blood
29	chr12:57521200-57522200	Flanking Active TSS	HMEC	breast
30	chr12:57521200-57522600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr12:57521200-57522600	Active TSS	A549	lung
32	chr12:57521200-57522600	Active TSS	Hela-S3	cervix
33	chr12:57521200-57523200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:57521200-57523400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr12:57521200-57523400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:57521200-57523400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:57521200-57523400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:57521200-57523400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:57521200-57523400	Active TSS	Fetal Intestine Large	intestine
40	chr12:57521200-57523400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr12:57521200-57523400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr12:57521200-57523600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:57521200-57523600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:57521200-57523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:57521200-57523600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:57521200-57523600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:57521200-57523600	Active TSS	Brain Anterior Caudate	brain
48	chr12:57521200-57523600	Active TSS	Colon Smooth Muscle	Colon
49	chr12:57521200-57523600	Active TSS	Fetal Intestine Small	intestine
50	chr12:57521200-57523600	Active TSS	Stomach Mucosa	stomach

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