Variant report

Variant	esv3372343
Chromosome Location	chr12:104234047-104236595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:676)
CpG islands
(count:611)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:676 , 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	chr12:104235364-104235584	K562	blood:	n/a	n/a
2	ARID3A	chr12:104235313-104235753	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:104234893-104235093	HepG2	liver:	n/a	n/a
4	ATF3	chr12:104234851-104235121	K562	blood:	n/a	n/a
5	BCLAF1	chr12:104234712-104235092	K562	blood:	n/a	n/a
6	BCLAF1	chr12:104234753-104235110	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:104234858-104235164	HepG2	liver:	n/a	chr12:104234978-104234994
8	BHLHE40	chr12:104235583-104235750	GM12878	blood:	n/a	chr12:104235712-104235728
9	BHLHE40	chr12:104234855-104235930	K562	blood:	n/a	chr12:104235712-104235728 chr12:104235197-104235213 chr12:104234978-104234994
10	BHLHE40	chr12:104234818-104235132	GM12878	blood:	n/a	chr12:104234978-104234994
11	BRCA1	chr12:104235583-104236014	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr12:104234898-104235099	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr12:104234919-104234945	GM12878	blood:	n/a	n/a
14	CBX3	chr12:104235439-104236135	K562	blood:	n/a	n/a
15	CBX3	chr12:104233528-104234051	K562	blood:	n/a	n/a
16	CCNT2	chr12:104234430-104235454	K562	blood:	n/a	n/a
17	CCNT2	chr12:104235696-104235896	K562	blood:	n/a	n/a
18	CEBPB	chr12:104234927-104235095	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:104235590-104236139	MCF-7	breast:	n/a	n/a
20	CEBPB	chr12:104235599-104236147	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:104234900-104235012	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPD	chr12:104234003-104234441	K562	blood:	n/a	n/a
23	CEBPD	chr12:104234836-104235238	HepG2	liver:	n/a	n/a
24	CHD1	chr12:104234122-104234140	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr12:104234739-104235000	GM12878	blood:	n/a	n/a
26	CHD2	chr12:104235075-104235086	GM12878	blood:	n/a	n/a
27	CHD2	chr12:104235685-104235875	K562	blood:	n/a	n/a
28	CHD2	chr12:104234598-104236048	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr12:104234956-104235108	HepG2	liver:	n/a	n/a
30	CHD2	chr12:104235245-104235484	K562	blood:	n/a	n/a
31	CHD2	chr12:104234874-104235136	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr12:104234532-104235440	GM12878	blood:	n/a	n/a
33	CREB1	chr12:104234512-104236075	A549	lung:	n/a	n/a
34	CREB1	chr12:104234784-104235263	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr12:104234875-104235107	A549	lung:	n/a	n/a
36	CREB1	chr12:104234537-104235925	HepG2	liver:	n/a	n/a
37	CTCF	chr12:104234600-104234750	HMEC	breast:	n/a	n/a
38	CTCF	chr12:104234940-104235090	GM12871	blood:	n/a	n/a
39	CTCF	chr12:104235640-104235790	HCPEpiC	choroid plexus:	n/a	chr12:104235676-104235689
40	CTCF	chr12:104234968-104235059	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr12:104234580-104234730	GM12873	blood:	n/a	n/a
42	CTCF	chr12:104235700-104235850	GM12872	blood:	n/a	n/a
43	CTCF	chr12:104234960-104235110	AG04449	skin:	n/a	n/a
44	CTCF	chr12:104234960-104235110	GM12865	blood:	n/a	n/a
45	CTCF	chr12:104235280-104235430	HepG2	liver:	n/a	n/a
46	CTCF	chr12:104234920-104235070	HepG2	liver:	n/a	n/a
47	CTCF	chr12:104234909-104235103	NHEK	skin:	n/a	n/a
48	CTCF	chr12:104235265-104235312	GM19238	blood:	n/a	n/a
49	CTCF	chr12:104235320-104235470	HMEC	breast:	n/a	n/a
50	CTCF	chr12:104234930-104235045	Lung_OC	lung:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104235298-104235348	GM12878	blood:	n/a
2	chr12:104235298-104235348	GM12878	blood:	n/a
3	chr12:104234975-104235025	HCT-116	colon:	n/a
4	chr12:104234663-104234713	H1-hESC	embryonic stem cell:	embryo
5	chr12:104234989-104235039	HEEpiC	esophagus:	n/a
6	chr12:104234495-104234545	GM19239	blood:	n/a
7	chr12:104234989-104235039	HUVEC	blood vessel:	n/a
8	chr12:104234963-104235013	Hepatocyte	liver:	n/a
9	chr12:104234963-104235013	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:104234963-104235013	GM06990	blood:	n/a
11	chr12:104235326-104235376	HRPEpiC	eye:	n/a
12	chr12:104235479-104235529	HEEpiC	esophagus:	n/a
13	chr12:104235326-104235376	SK-N-SH_RA	brain:	n/a
14	chr12:104234989-104235039	MCF-7	breast:	n/a
15	chr12:104234989-104235039	AG04449	skin:	fetal
16	chr12:104235298-104235348	Hepatocyte	liver:	n/a
17	chr12:104234557-104234607	HNPCEpiC	eye:	n/a
18	chr12:104234989-104235039	ProgFib	skin:	n/a
19	chr12:104234989-104235039	HCPEpiC	choroid plexus:	n/a
20	chr12:104234663-104234713	Hepatocyte	liver:	n/a
21	chr12:104234495-104234545	AG04449	skin:	fetal
22	chr12:104234975-104235025	SK-N-SH	brain:	n/a
23	chr12:104235479-104235529	BJ	skin:	n/a
24	chr12:104235479-104235529	HRCEpiC	kidney:	n/a
25	chr12:104235326-104235376	HEK293	kidney:	embryo
26	chr12:104234557-104234607	HCF	heart:	n/a
27	chr12:104234557-104234607	MCF-7	breast:	n/a
28	chr12:104234975-104235025	PrEC	prostate:	n/a
29	chr12:104235298-104235348	ProgFib	skin:	n/a
30	chr12:104235554-104235604	MCF10A-Er-Src	breast:	n/a
31	chr12:104235554-104235604	GM12892	blood:	n/a
32	chr12:104234963-104235013	MCF-7	breast:	n/a
33	chr12:104234557-104234607	GM12892	blood:	n/a
34	chr12:104235479-104235529	HCM	heart:	n/a
35	chr12:104235479-104235529	NH-A	brain:	n/a
36	chr12:104234557-104234607	Jurkat	blood:	n/a
37	chr12:104234989-104235039	HNPCEpiC	eye:	n/a
38	chr12:104234975-104235025	NHDF-neo	bronchial:	n/a
39	chr12:104234963-104235013	NHDF-neo	bronchial:	n/a
40	chr12:104235298-104235348	HRCEpiC	kidney:	n/a
41	chr12:104234975-104235025	Hepatocyte	liver:	n/a
42	chr12:104234975-104235025	HAEpiC	amniotic membrane:	n/a
43	chr12:104234663-104234713	Caco-2	colon:	n/a
44	chr12:104235298-104235348	SK-N-SH_RA	brain:	n/a
45	chr12:104235479-104235529	PANC-1	pancreas:	n/a
46	chr12:104235554-104235604	SK-N-SH	brain:	n/a
47	chr12:104234963-104235013	HCT-116	colon:	n/a
48	chr12:104234989-104235039	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:104234975-104235025	GM19239	blood:	n/a
50	chr12:104234975-104235025	HRE	kidney:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
2	chr12:104235292..104235920-chr7:26228161..26228786,2	Hela-S3	cervix:
3	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
4	chr12:104160749..104162806-chr12:104234443..104236279,2	MCF-7	breast:
5	chr12:72057709..72058670-chr12:104234719..104235282,2	Hela-S3	cervix:
6	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:
7	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
8	chr12:104235182..104235757-chr17:74067817..74068670,2	NB4	blood:
9	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
10	chr12:104235142..104235987-chr6:86388387..86389071,2	Hela-S3	cervix:
11	chr12:104234533..104235240-chr19:10513828..10514503,2	NB4	blood:
12	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
13	chr12:104234703..104235400-chr13:52026637..52027270,2	Hela-S3	cervix:
14	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
15	chr12:104234711..104235696-chr20:1875093..1875760,2	NB4	blood:
16	chr12:104192326..104196273-chr12:104235179..104237558,3	K562	blood:
17	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
18	chr12:104234482..104235223-chr8:101964322..101965093,2	Hela-S3	cervix:
19	chr12:56123120..56123867-chr12:104234782..104235765,2	Hela-S3	cervix:
20	chr1:28974871..28975747-chr12:104235261..104236177,2	Hela-S3	cervix:
21	chr12:104234500..104235335-chr20:47894521..47895210,2	HCT-116	colon:
22	chr12:104235342..104236842-chr12:104357860..104360492,2	K562	blood:
23	chr12:104234789..104235563-chr4:99916598..99917296,2	Hela-S3	cervix:
24	chr12:104234444..104235161-chr2:232571302..232572104,2	Hela-S3	cervix:
25	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
26	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
27	chr12:104234967..104235629-chr17:73936754..73937403,2	Hela-S3	cervix:
28	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
29	chr12:104234687..104235662-chr5:217951..218516,2	Hela-S3	cervix:
30	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
31	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
32	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
33	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
34	chr12:104156601..104158304-chr12:104234434..104236510,2	MCF-7	breast:
35	chr10:105155976..105156525-chr12:104234738..104235627,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000257327	TF binding region
NT5DC3	TF binding region
ENSG00000257327	CpG island
NT5DC3	CpG island
ENSG00000164924	chromatin interactions
ENSG00000105401	chromatin interactions
ENSG00000173915	chromatin interactions
ENSG00000135404	chromatin interactions
ENSG00000257754	chromatin interactions
ENSG00000269363	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000173451	chromatin interactions
ENSG00000164366	chromatin interactions
ENSG00000221566	chromatin interactions
ENSG00000120837	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000133858	chromatin interactions
ENSG00000198053	chromatin interactions
ENSG00000148843	chromatin interactions
ENSG00000187514	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000073578	chromatin interactions
ENSG00000203875	chromatin interactions
ENSG00000198431	chromatin interactions
ENSG00000257681	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000186919	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000188878	chromatin interactions
ENSG00000136011	chromatin interactions
ENSG00000167881	chromatin interactions
ENSG00000102786	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149709153	chr12:104234077-104234078	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs531879129	chr12:104234085-104234086	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs188141981	chr12:104234092-104234093	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs192210537	chr12:104234112-104234113	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs534036286	chr12:104234125-104234126	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs114653742	chr12:104234128-104234129	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs570774381	chr12:104234149-104234150	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs149259848	chr12:104234150-104234151	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs200454366	chr12:104234152-104234153	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs201574900	chr12:104234155-104234156	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs10552367	chr12:104234156-104234157	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs73175817	chr12:104234160-104234161	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs556264556	chr12:104234162-104234163	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs575659389	chr12:104234165-104234166	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs544509723	chr12:104234172-104234173	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs573810186	chr12:104234187-104234188	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs60713496	chr12:104234196-104234197	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs534475248	chr12:104234199-104234200	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs574640177	chr12:104234200-104234201	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs7958255	chr12:104234201-104234202	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs202191326	chr12:104234202-104234203	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs112213241	chr12:104234206-104234207	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs79596501	chr12:104234207-104234208	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs375940618	chr12:104234221-104234222	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs539966162	chr12:104234240-104234241	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs560226580	chr12:104234309-104234310	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs576842378	chr12:104234403-104234404	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs187902612	chr12:104234427-104234428	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs562132964	chr12:104234449-104234450	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs117202806	chr12:104234460-104234461	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs548425524	chr12:104234486-104234487	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs192506732	chr12:104234512-104234513	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs112761586	chr12:104234663-104234664	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs184642737	chr12:104234667-104234668	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs189109085	chr12:104234764-104234765	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
36	rs547661737	chr12:104234783-104234784	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
37	rs375045975	chr12:104234933-104234934	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs192968410	chr12:104234980-104234981	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
39	rs184866988	chr12:104235004-104235005	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
40	rs11111809	chr12:104235023-104235024	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570026051	chr12:104235033-104235034	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
42	rs527702806	chr12:104235164-104235165	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
43	rs35015549	chr12:104235207-104235208	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs34187551	chr12:104235229-104235230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs61658980	chr12:104235230-104235231	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
46	rs574768135	chr12:104235259-104235260	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
47	rs75449400	chr12:104235300-104235301	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs116314589	chr12:104235308-104235309	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	rs188413755	chr12:104235392-104235393	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
50	rs372331042	chr12:104235443-104235444	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104231800-104235400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:104231800-104236000	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:104232000-104236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104232200-104235600	Active TSS	Aorta	Aorta
5	chr12:104232400-104235800	Active TSS	Colon Smooth Muscle	Colon
6	chr12:104232600-104234200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr12:104232600-104234200	Flanking Active TSS	Liver	Liver
8	chr12:104232800-104234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:104232800-104234200	Flanking Active TSS	NH-A	brain
10	chr12:104232800-104234400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:104232800-104235400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:104233000-104234200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:104233000-104234200	Enhancers	Gastric	stomach
14	chr12:104233000-104235800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104233000-104236000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:104233200-104234200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104233200-104234200	Active TSS	Right Atrium	heart
18	chr12:104233400-104234200	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:104233400-104234200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:104233400-104234200	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:104233400-104234200	Flanking Active TSS	HSMM	muscle
22	chr12:104233400-104234200	Flanking Active TSS	Osteobl	bone
23	chr12:104233400-104234400	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr12:104233400-104234600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:104233400-104235400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:104233400-104236000	Active TSS	Fetal Brain Female	brain
27	chr12:104233600-104234200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr12:104233600-104234200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr12:104233600-104234200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:104233600-104234200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:104233600-104234200	Enhancers	Primary T cells from cord blood	blood
32	chr12:104233600-104234200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:104233600-104234200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:104233600-104234200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:104233600-104234200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr12:104233600-104234200	Active TSS	Brain Germinal Matrix	brain
37	chr12:104233600-104234200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr12:104233600-104234200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:104233600-104234200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:104233600-104234200	Flanking Active TSS	K562	blood
41	chr12:104233600-104234400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:104233600-104234400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:104233600-104234400	Enhancers	Small Intestine	intestine
44	chr12:104233600-104234400	Enhancers	Stomach Mucosa	stomach
45	chr12:104233600-104234600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:104233600-104234600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:104233600-104234800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:104233600-104235600	Active TSS	HSMMtube	muscle
49	chr12:104233600-104235800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104233600-104236000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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