Variant report

Variant	esv1834434
Chromosome Location	chr12:106637876-106649988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:549)
CpG islands
(count:734)
Chromatin interactive
region (count:22)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:106642335-106642483	HepG2	liver:	n/a	n/a
2	ATF2	chr12:106648488-106648849	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:106642177-106642831	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr12:106642047-106642646	A549	lung:	n/a	chr12:106642156-106642169 chr12:106642135-106642144
5	BHLHE40	chr12:106641655-106641899	HepG2	liver:	n/a	chr12:106641740-106641756
6	BHLHE40	chr12:106641123-106641230	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:106641682-106641768	K562	blood:	n/a	chr12:106641740-106641756
8	BHLHE40	chr12:106641572-106641918	GM12878	blood:	n/a	chr12:106641740-106641756
9	BRCA1	chr12:106642458-106642460	HepG2	liver:	n/a	n/a
10	CCNT2	chr12:106641692-106641893	K562	blood:	n/a	n/a
11	CEBPB	chr12:106646358-106646710	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:106639683-106640014	IMR90	lung:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
13	CEBPB	chr12:106639646-106640005	Hela-S3	cervix:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
14	CEBPB	chr12:106646528-106646612	K562	blood:	n/a	n/a
15	CEBPB	chr12:106639807-106639998	H1-hESC	embryonic stem cell:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
16	CEBPB	chr12:106642899-106643094	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:106646453-106646644	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr12:106646362-106646708	IMR90	lung:	n/a	n/a
19	CEBPB	chr12:106646357-106646699	A549	lung:	n/a	n/a
20	CEBPB	chr12:106639695-106639963	HepG2	liver:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
21	CEBPB	chr12:106639649-106640022	A549	lung:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
22	CEBPB	chr12:106642837-106643208	IMR90	lung:	n/a	n/a
23	CEBPB	chr12:106639596-106640084	A549	lung:	n/a	chr12:106639828-106639839 chr12:106639827-106639840
24	CEBPD	chr12:106641748-106642031	HepG2	liver:	n/a	n/a
25	CEBPD	chr12:106641712-106642110	HepG2	liver:	n/a	n/a
26	CHD1	chr12:106639633-106643296	IMR90	lung:	n/a	chr12:106641025-106641035
27	CHD2	chr12:106642428-106642474	HepG2	liver:	n/a	n/a
28	CHD2	chr12:106641803-106641805	HepG2	liver:	n/a	n/a
29	CHD2	chr12:106641149-106641203	GM12878	blood:	n/a	n/a
30	CHD2	chr12:106639604-106640069	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr12:106642258-106642369	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr12:106640657-106641082	Hela-S3	cervix:	n/a	chr12:106641025-106641035
33	CHD2	chr12:106641823-106641890	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr12:106641338-106642036	A549	lung:	n/a	n/a
35	CTCF	chr12:106642380-106642530	GM12874	blood:	n/a	n/a
36	CTCF	chr12:106645720-106645870	BJ	skin:	n/a	n/a
37	CTCF	chr12:106641200-106641350	GM12871	blood:	n/a	n/a
38	CTCF	chr12:106640780-106640930	AG04449	skin:	n/a	n/a
39	CTCF	chr12:106641177-106641187	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr12:106645380-106645530	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr12:106641120-106641270	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr12:106641200-106641350	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr12:106641140-106641290	GM12878	blood:	n/a	n/a
44	CTCF	chr12:106641140-106641290	GM12864	blood:	n/a	n/a
45	CTCF	chr12:106641080-106641230	GM06990	blood:	n/a	n/a
46	CTCF	chr12:106642200-106642350	AG04449	skin:	n/a	n/a
47	CTCF	chr12:106645440-106645590	AG04450	lung:	n/a	n/a
48	CTCF	chr12:106645400-106645550	AG04449	skin:	n/a	n/a
49	CTCF	chr12:106641240-106641390	HFF	foreskin:	n/a	n/a
50	CTCF	chr12:106641225-106641338	Pancreas_OC	pancreas:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106641994-106642044	SK-N-SH	brain:	n/a
2	chr12:106638076-106638126	PrEC	prostate:	n/a
3	chr12:106641994-106642044	SK-N-SH	brain:	n/a
4	chr12:106638076-106638126	PrEC	prostate:	n/a
5	chr12:106639919-106639969	H1-hESC	embryonic stem cell:	embryo
6	chr12:106642937-106642987	AG10803	skin:	n/a
7	chr12:106645964-106646014	NHBE	bronchial:	n/a
8	chr12:106645964-106646014	H1-hESC	embryonic stem cell:	embryo
9	chr12:106642001-106642051	NH-A	brain:	n/a
10	chr12:106642001-106642051	HCPEpiC	choroid plexus:	n/a
11	chr12:106641008-106641058	HRPEpiC	eye:	n/a
12	chr12:106648541-106648591	NT2-D1	testis:	n/a
13	chr12:106642001-106642051	HCM	heart:	n/a
14	chr12:106641008-106641058	NT2-D1	testis:	n/a
15	chr12:106639919-106639969	HCF	heart:	n/a
16	chr12:106645490-106645540	NT2-D1	testis:	n/a
17	chr12:106641134-106641184	MCF-7	breast:	n/a
18	chr12:106641486-106641536	PFSK-1	brain:	n/a
19	chr12:106642001-106642051	HMEC	breast:	n/a
20	chr12:106641486-106641536	MCF-7	breast:	n/a
21	chr12:106641994-106642044	AoSMC	blood vessel:	n/a
22	chr12:106642001-106642051	NHBE	bronchial:	n/a
23	chr12:106641994-106642044	HEEpiC	esophagus:	n/a
24	chr12:106648541-106648591	CMK	blood:	n/a
25	chr12:106641486-106641536	K562	blood:	n/a
26	chr12:106641994-106642044	BE2_C	brain:	n/a
27	chr12:106648541-106648591	HNPCEpiC	eye:	n/a
28	chr12:106642001-106642051	NB4	blood:	n/a
29	chr12:106641486-106641536	SK-N-MC	brain:	n/a
30	chr12:106641994-106642044	HRE	kidney:	n/a
31	chr12:106645964-106646014	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:106642937-106642987	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:106638076-106638126	HRCEpiC	kidney:	n/a
34	chr12:106642360-106642410	BJ	skin:	n/a
35	chr12:106648541-106648591	HMEC	breast:	n/a
36	chr12:106645964-106646014	HRCEpiC	kidney:	n/a
37	chr12:106639919-106639969	RPTEC	kidney:	n/a
38	chr12:106641994-106642044	PrEC	prostate:	n/a
39	chr12:106642937-106642987	NH-A	brain:	n/a
40	chr12:106639919-106639969	HEK293	kidney:	embryo
41	chr12:106639919-106639969	BJ	skin:	n/a
42	chr12:106639919-106639969	HL-60	blood:	n/a
43	chr12:106642001-106642051	SKMC	muscle:	n/a
44	chr12:106641134-106641184	CMK	blood:	n/a
45	chr12:106641008-106641058	GM12892	blood:	n/a
46	chr12:106641134-106641184	ovcar-3	ovarian:	n/a
47	chr12:106639919-106639969	AG04449	skin:	fetal
48	chr12:106638076-106638126	HepG2	liver:	n/a
49	chr12:106641134-106641184	NH-A	brain:	n/a
50	chr12:106642001-106642051	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
2	chr12:106636406..106639904-chr12:106695865..106698141,3	MCF-7	breast:
3	chr12:106641882..106643930-chr12:106685440..106687264,2	MCF-7	breast:
4	chr12:106649519..106651023-chr12:106669984..106671532,2	MCF-7	breast:
5	chr12:105500524..105503114-chr12:106640734..106642263,2	MCF-7	breast:
6	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:
7	chr12:106641570..106642137-chr12:106697112..106697741,2	MCF-7	breast:
8	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
9	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:
10	chr12:106640559..106643459-chr12:107485293..107487296,2	K562	blood:
11	chr12:106640197..106643892-chr12:106649665..106652759,3	MCF-7	breast:
12	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
13	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:
14	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
15	chr12:106645468..106647361-chr12:106648038..106649886,2	MCF-7	breast:
16	chr12:106645468..106647361-chr12:106648038..106649886,2	MCF-7	breast:
17	chr12:106644967..106648309-chr12:106659700..106662827,5	MCF-7	breast:
18	chr12:106637683..106639757-chr12:106691523..106693781,3	MCF-7	breast:
19	chr12:106647187..106649805-chr12:106683824..106686258,2	MCF-7	breast:
20	chr12:106640861..106643735-chr12:106674267..106678317,3	MCF-7	breast:
21	chr12:106642113..106643655-chr12:106665361..106667243,2	MCF-7	breast:
22	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUAK1-2	chr12:106639391-106639460	ENSG00000258355.1
2	lnc-TCP11L2-1	chr12:106642520-106642537	XLOC_009869
3	lnc-TCP11L2-1	chr12:106645908-106646265	XLOC_009869
4	lnc-TCP11L2-1	chr12:106645908-106646559	XLOC_009869
5	lnc-TCP11L2-1	chr12:106643487-106643556	XLOC_009869
6	lnc-NUAK1-2	chr12:106640493-106640734	ENSG00000258355.1
7	lnc-TCP11L2-1	chr12:106645908-106646559	NONHSAT030477
8	lnc-TCP11L2-1	chr12:106643468-106643556	NONHSAT030477

No data

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000258355	TF binding region
CKAP4	CpG island
ENSG00000258355	CpG island
ENSG00000257548	chromatin interactions
ENSG00000258355	chromatin interactions
ENSG00000013503	chromatin interactions
ENSG00000166046	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000238609	chromatin interactions
ENSG00000008405	chromatin interactions
ENSG00000074590	chromatin interactions
ENSG00000136026	chromatin interactions
PTP4A1	miRNA target sites

Extended variants
information (count: 441 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3782699	chr12:106637876-106637877	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556733751	chr12:106637883-106637884	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs141271108	chr12:106637947-106637948	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367598293	chr12:106637951-106637952	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542515112	chr12:106637960-106637961	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369945655	chr12:106637983-106637984	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs191693462	chr12:106638037-106638038	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs2162532	chr12:106638048-106638049	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs370822717	chr12:106638068-106638069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs527984367	chr12:106638105-106638106	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs541469489	chr12:106638126-106638127	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs150322126	chr12:106638133-106638134	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs533484894	chr12:106638169-106638170	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs549970613	chr12:106638204-106638205	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs182912597	chr12:106638207-106638208	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs150366149	chr12:106638231-106638232	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs11112915	chr12:106638240-106638241	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549157639	chr12:106638243-106638244	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs565676577	chr12:106638362-106638363	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs186834146	chr12:106638401-106638402	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34678487	chr12:106638424-106638425	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs191864354	chr12:106638463-106638464	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567222474	chr12:106638532-106638533	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs570876104	chr12:106638537-106638538	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537158776	chr12:106638554-106638555	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs556737125	chr12:106638566-106638567	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs377126050	chr12:106638570-106638571	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs149081184	chr12:106638678-106638679	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs555983559	chr12:106638689-106638690	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs572803333	chr12:106638699-106638700	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs182165158	chr12:106638703-106638704	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs564484917	chr12:106638717-106638718	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs577915525	chr12:106638837-106638838	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs112372644	chr12:106638887-106638888	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs543900816	chr12:106638890-106638891	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs567744237	chr12:106638897-106638898	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs563677952	chr12:106638904-106638905	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs529378592	chr12:106638909-106638910	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs149486251	chr12:106638938-106638939	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs546748657	chr12:106639035-106639036	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369538419	chr12:106639092-106639093	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs75045787	chr12:106639095-106639096	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs115211792	chr12:106639171-106639172	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs551221814	chr12:106639181-106639182	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs77377385	chr12:106639190-106639191	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs186766243	chr12:106639213-106639214	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs148274358	chr12:106639268-106639269	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs567286871	chr12:106639285-106639286	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs536324826	chr12:106639347-106639348	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs556016409	chr12:106639358-106639359	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1036 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:106628600-106638600	Weak transcription	Fetal Brain Male	brain
6	chr12:106629000-106638400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:106629400-106639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:106630200-106638600	Weak transcription	Hela-S3	cervix
9	chr12:106630200-106638600	Strong transcription	NHLF	lung
10	chr12:106630400-106638200	Strong transcription	HSMM	muscle
11	chr12:106630600-106638600	Weak transcription	Small Intestine	intestine
12	chr12:106631400-106638400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:106631400-106638600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:106631600-106638400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:106631800-106638400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:106632200-106638200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:106632800-106639000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:106633200-106638400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:106633400-106638800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:106633400-106638800	Weak transcription	GM12878-XiMat	blood
21	chr12:106633600-106638000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:106633600-106639000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:106634000-106638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:106634000-106638800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:106634000-106638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:106634000-106638800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:106634000-106638800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:106634000-106639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106634200-106638000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:106634200-106638200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:106634200-106638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:106634200-106638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:106634200-106638800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:106634200-106638800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:106634200-106638800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:106634200-106639000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:106634200-106639000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:106634200-106639600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:106634200-106639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:106634200-106639800	Weak transcription	Fetal Intestine Small	intestine
41	chr12:106634200-106640200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:106634400-106639000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:106634800-106638400	Weak transcription	Colonic Mucosa	Colon
46	chr12:106634800-106638600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:106635400-106638200	Genic enhancers	Left Ventricle	heart
48	chr12:106635400-106638200	Strong transcription	HMEC	breast
49	chr12:106635400-106638400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:106635600-106639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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