Variant report

Variant	esv3325054
Chromosome Location	chr12:12713710-12717058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1132)
CpG islands
(count:549)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:12715272-12715278	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:12716488-12716789	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:12715585-12716186	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:12713874-12714485	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:12714109-12714510	K562	blood:	n/a	n/a
6	ATF1	chr12:12715415-12715753	K562	blood:	n/a	n/a
7	ATF2	chr12:12715421-12715959	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:12715111-12716047	GM12878	blood:	n/a	n/a
9	ATF2	chr12:12716905-12717353	GM12878	blood:	n/a	n/a
10	ATF2	chr12:12715350-12716327	GM12878	blood:	n/a	n/a
11	ATF2	chr12:12715347-12715999	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr12:12713602-12714509	GM12878	blood:	n/a	n/a
13	ATF2	chr12:12713568-12714496	GM12878	blood:	n/a	n/a
14	ATF3	chr12:12715391-12715772	K562	blood:	n/a	n/a
15	BACH1	chr12:12714580-12714743	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr12:12715606-12716184	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr12:12715408-12715912	GM12878	blood:	n/a	n/a
18	BCL11A	chr12:12715508-12715811	GM12878	blood:	n/a	n/a
19	BCLAF1	chr12:12716875-12717290	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:12716892-12717271	GM12878	blood:	n/a	n/a
21	BCLAF1	chr12:12715476-12715940	GM12878	blood:	n/a	n/a
22	BCLAF1	chr12:12713562-12715025	GM12878	blood:	n/a	chr12:12714772-12714785 chr12:12714841-12714854 chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
23	BCLAF1	chr12:12713612-12714768	GM12878	blood:	n/a	chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
24	BHLHE40	chr12:12714066-12714708	K562	blood:	n/a	n/a
25	BHLHE40	chr12:12715385-12715980	GM12878	blood:	n/a	n/a
26	BHLHE40	chr12:12713737-12714778	GM12878	blood:	n/a	n/a
27	BHLHE40	chr12:12715737-12715804	K562	blood:	n/a	n/a
28	BHLHE40	chr12:12714107-12714809	HepG2	liver:	n/a	n/a
29	BRCA1	chr12:12716882-12717272	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr12:12715528-12715891	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr12:12715996-12716152	GM12878	blood:	n/a	n/a
32	BRCA1	chr12:12715711-12716066	HepG2	liver:	n/a	n/a
33	BRCA1	chr12:12713877-12714319	HepG2	liver:	n/a	n/a
34	BRCA1	chr12:12715579-12715615	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr12:12716906-12717278	K562	blood:	n/a	n/a
36	CCNT2	chr12:12714548-12716043	K562	blood:	n/a	chr12:12715511-12715520 chr12:12715498-12715507 chr12:12715503-12715512 chr12:12715406-12715415
37	CEBPB	chr12:12714401-12714846	A549	lung:	n/a	n/a
38	CEBPB	chr12:12714487-12714819	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:12713933-12714356	ECC-1	luminal epithelium:	n/a	chr12:12714128-12714139
40	CEBPB	chr12:12713926-12714349	K562	blood:	n/a	chr12:12714128-12714139
41	CEBPB	chr12:12713957-12714859	HepG2	liver:	n/a	chr12:12714128-12714139
42	CEBPB	chr12:12715161-12715836	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr12:12714036-12714245	K562	blood:	n/a	chr12:12714128-12714139
44	CEBPB	chr12:12714514-12714707	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:12713905-12714442	MCF-7	breast:	n/a	chr12:12714128-12714139
46	CEBPB	chr12:12713991-12714196	HepG2	liver:	n/a	chr12:12714128-12714139
47	CEBPB	chr12:12713887-12714323	HepG2	liver:	n/a	chr12:12714128-12714139
48	CEBPB	chr12:12713800-12714848	Hela-S3	cervix:	n/a	chr12:12714128-12714139
49	CEBPB	chr12:12713759-12714500	HCT-116	colon:	n/a	chr12:12714128-12714139
50	CEBPB	chr12:12713889-12714377	A549	lung:	n/a	chr12:12714128-12714139

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12715811-12715861	MCF10A-Er-Src	breast:	n/a
2	chr12:12715438-12715488	AG09319	gingival:	n/a
3	chr12:12715060-12715110	Jurkat	blood:	n/a
4	chr12:12715060-12715110	BJ	skin:	n/a
5	chr12:12715811-12715861	HRCEpiC	kidney:	n/a
6	chr12:12715558-12715608	HEEpiC	esophagus:	n/a
7	chr12:12715558-12715608	HRCEpiC	kidney:	n/a
8	chr12:12715028-12715078	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:12715028-12715078	BJ	skin:	n/a
10	chr12:12715636-12715686	HEK293	kidney:	embryo
11	chr12:12715028-12715078	ovcar-3	ovarian:	n/a
12	chr12:12715628-12715678	Jurkat	blood:	n/a
13	chr12:12715028-12715078	HCF	heart:	n/a
14	chr12:12714548-12714598	HL-60	blood:	n/a
15	chr12:12714809-12714859	HepG2	liver:	n/a
16	chr12:12715636-12715686	HL-60	blood:	n/a
17	chr12:12715811-12715861	NHDF-neo	bronchial:	n/a
18	chr12:12715636-12715686	ovcar-3	ovarian:	n/a
19	chr12:12715811-12715861	HEEpiC	esophagus:	n/a
20	chr12:12715636-12715686	HUVEC	blood vessel:	n/a
21	chr12:12715628-12715678	HEK293	kidney:	embryo
22	chr12:12715558-12715608	BJ	skin:	n/a
23	chr12:12715028-12715078	PFSK-1	brain:	n/a
24	chr12:12715558-12715608	NB4	blood:	n/a
25	chr12:12715558-12715608	NHBE	bronchial:	n/a
26	chr12:12715628-12715678	NB4	blood:	n/a
27	chr12:12714548-12714598	SK-N-SH_RA	brain:	n/a
28	chr12:12715438-12715488	HRPEpiC	eye:	n/a
29	chr12:12715438-12715488	AoSMC	blood vessel:	n/a
30	chr12:12715438-12715488	RPTEC	kidney:	n/a
31	chr12:12714548-12714598	H1-hESC	embryonic stem cell:	embryo
32	chr12:12715028-12715078	SK-N-SH_RA	brain:	n/a
33	chr12:12714548-12714598	HCPEpiC	choroid plexus:	n/a
34	chr12:12715438-12715488	GM06990	blood:	n/a
35	chr12:12714809-12714859	AoSMC	blood vessel:	n/a
36	chr12:12715811-12715861	HCM	heart:	n/a
37	chr12:12715438-12715488	HNPCEpiC	eye:	n/a
38	chr12:12715636-12715686	HCPEpiC	choroid plexus:	n/a
39	chr12:12715438-12715488	Caco-2	colon:	n/a
40	chr12:12715558-12715608	PFSK-1	brain:	n/a
41	chr12:12715438-12715488	HEEpiC	esophagus:	n/a
42	chr12:12715060-12715110	ovcar-3	ovarian:	n/a
43	chr12:12714548-12714598	IMR90	lung:	fetal
44	chr12:12715060-12715110	CMK	blood:	n/a
45	chr12:12714548-12714598	SK-N-SH	brain:	n/a
46	chr12:12715028-12715078	T-47D	breast:	n/a
47	chr12:12715811-12715861	GM06990	blood:	n/a
48	chr12:12714548-12714598	NB4	blood:	n/a
49	chr12:12715028-12715078	HCT-116	colon:	n/a
50	chr12:12714809-12714859	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
2	chr12:12713685..12716948-chr12:12760123..12768151,9	K562	blood:
3	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
4	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:
5	chr12:12636858..12639097-chr12:12712585..12714151,2	MCF-7	breast:
6	chr12:12715374..12716942-chr12:12773209..12776027,2	MCF-7	breast:
7	chr1:45769125..45769635-chr12:12714594..12715146,2	Hela-S3	cervix:
8	chr12:12673127..12675193-chr12:12712366..12713939,3	MCF-7	breast:
9	chr12:12502650..12504579-chr12:12713839..12715957,2	MCF-7	breast:
10	chr12:12714295..12715106-chr7:4814976..4815762,2	Hela-S3	cervix:
11	chr12:12713534..12716816-chr12:12876902..12880504,5	K562	blood:
12	chr12:12672602..12674761-chr12:12714230..12715790,2	MCF-7	breast:
13	chr12:12634486..12639853-chr12:12714024..12717789,5	K562	blood:
14	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
15	chr12:12714451..12716184-chr12:12937424..12940263,2	MCF-7	breast:
16	chr12:12712251..12716973-chr12:12867058..12873344,10	MCF-7	breast:
17	chr12:12713858..12718896-chr12:12719623..12723320,7	MCF-7	breast:
18	chr12:12418062..12421378-chr12:12712958..12715949,4	MCF-7	breast:
19	chr12:12714662..12715442-chr17:80204303..80205173,2	Hela-S3	cervix:
20	chr12:12549500..12552302-chr12:12715831..12718057,2	MCF-7	breast:
21	chr12:12715613..12717543-chr12:12816506..12818729,2	K562	blood:
22	chr12:12714508..12716169-chr12:12878232..12880566,3	K562	blood:
23	chr12:12672853..12675163-chr12:12712393..12714277,2	K562	blood:
24	chr12:12603843..12606415-chr12:12711459..12714793,4	MCF-7	breast:
25	chr12:12601826..12603513-chr12:12715714..12717891,2	MCF-7	breast:
26	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
27	chr12:12713075..12717194-chr12:12718362..12721939,6	K562	blood:
28	chr12:12714157..12716777-chr12:12764288..12766468,3	MCF-7	breast:
29	chr12:12551390..12552369-chr12:12716988..12717558,2	MCF-7	breast:
30	chr12:12713878..12715518-chr12:14922092..14923933,2	MCF-7	breast:
31	chr12:12507988..12510235-chr12:12714031..12716523,2	MCF-7	breast:
32	chr12:12713891..12716367-chr3:161087265..161090021,2	MCF-7	breast:
33	chr12:12712965..12715376-chr12:12848428..12850169,2	K562	blood:
34	chr12:12713736..12716645-chr12:14925588..14929665,3	MCF-7	breast:
35	chr12:12713899..12715883-chr12:12875674..12879074,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR19-3	chr12:12713700-12713820	NONHSAT026985

No data

Variant related genes	Relation type
DUSP16	TF binding region
DUSP16	CpG island
ENSG00000196542	chromatin interactions
ENSG00000183150	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000111269	chromatin interactions
ENSG00000240424	chromatin interactions
ENSG00000111261	chromatin interactions
ENSG00000111266	chromatin interactions
ENSG00000197837	chromatin interactions
ENSG00000246705	chromatin interactions
ENSG00000255670	chromatin interactions
ENSG00000178878	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000256658	chromatin interactions
ENSG00000271370	chromatin interactions
ENSG00000070018	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000141551	chromatin interactions
ENSG00000242802	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540137859	chr12:12713734-12713735	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
2	rs558468532	chr12:12713738-12713739	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
3	rs78055652	chr12:12713786-12713787	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
4	rs544036990	chr12:12713800-12713801	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
5	rs562681901	chr12:12713873-12713874	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs142326409	chr12:12713880-12713881	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs71890495	chr12:12713881-12713882	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs56190302	chr12:12713887-12713888	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190506854	chr12:12713888-12713889	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs59003764	chr12:12713900-12713901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs539306272	chr12:12713914-12713915	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs530158552	chr12:12714034-12714035	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs370342424	chr12:12714051-12714052	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs140576661	chr12:12714100-12714101	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs4763843	chr12:12714102-12714103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs543777067	chr12:12714106-12714107	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs552604180	chr12:12714115-12714116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs571205835	chr12:12714127-12714128	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs370603876	chr12:12714143-12714144	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs555691375	chr12:12714181-12714182	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs575593387	chr12:12714200-12714201	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs544154279	chr12:12714207-12714208	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs561056675	chr12:12714213-12714214	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs182218010	chr12:12714216-12714217	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs552736029	chr12:12714223-12714224	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs568603079	chr12:12714239-12714240	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs370979243	chr12:12714257-12714258	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs185908912	chr12:12714263-12714264	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs554601468	chr12:12714269-12714270	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs566439965	chr12:12714300-12714301	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs150457182	chr12:12714370-12714371	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs11054972	chr12:12714372-12714373	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138458359	chr12:12714380-12714381	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs573725945	chr12:12714395-12714396	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs372818571	chr12:12714403-12714404	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs141448906	chr12:12714421-12714422	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs144965501	chr12:12714453-12714454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs189208679	chr12:12714510-12714511	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs560685779	chr12:12714556-12714557	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs527780068	chr12:12714576-12714577	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs546257721	chr12:12714587-12714588	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs111554043	chr12:12714637-12714638	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs368017356	chr12:12714646-12714647	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs564442893	chr12:12714677-12714678	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs532057320	chr12:12714687-12714688	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs539492645	chr12:12714688-12714689	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs138831298	chr12:12714707-12714708	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs112423208	chr12:12714712-12714713	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs559477441	chr12:12714743-12714744	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs562144812	chr12:12714770-12714771	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12688200-12714400	Weak transcription	Gastric	stomach
2	chr12:12701800-12713800	Weak transcription	HSMM	muscle
3	chr12:12703800-12713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12706600-12714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:12711400-12716000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr12:12711600-12714000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:12711600-12714200	Weak transcription	Esophagus	oesophagus
8	chr12:12711600-12716000	Active TSS	GM12878-XiMat	blood
9	chr12:12711600-12716200	Active TSS	Liver	Liver
10	chr12:12711600-12716200	Active TSS	Duodenum Mucosa	Duodenum
11	chr12:12711600-12716200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:12712000-12714200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:12712000-12716000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:12712000-12716000	Active TSS	Fetal Intestine Large	intestine
15	chr12:12712000-12716200	Active TSS	Fetal Intestine Small	intestine
16	chr12:12712200-12716200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:12712400-12714800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr12:12712600-12714000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:12712600-12714000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:12712600-12714000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:12712600-12716000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr12:12712600-12716000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:12712600-12716000	Active TSS	Colonic Mucosa	Colon
24	chr12:12712600-12716000	Active TSS	Fetal Brain Female	brain
25	chr12:12712600-12716000	Active TSS	Thymus	Thymus
26	chr12:12712600-12716000	Active TSS	K562	blood
27	chr12:12712600-12716200	Active TSS	NHLF	lung
28	chr12:12712800-12713800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:12712800-12714600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:12712800-12716000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:12712800-12716000	Active TSS	Brain Anterior Caudate	brain
32	chr12:12712800-12716000	Active TSS	Fetal Stomach	stomach
33	chr12:12712800-12716200	Active TSS	Brain Cingulate Gyrus	brain
34	chr12:12712800-12716400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:12712800-12716400	Active TSS	Fetal Muscle Trunk	muscle
36	chr12:12712800-12716400	Active TSS	Right Atrium	heart
37	chr12:12712800-12716800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:12713000-12713800	Weak transcription	Left Ventricle	heart
39	chr12:12713000-12713800	Weak transcription	Small Intestine	intestine
40	chr12:12713000-12714000	Flanking Active TSS	HMEC	breast
41	chr12:12713000-12716000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:12713000-12716000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:12713000-12716000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:12713000-12716000	Active TSS	Fetal Muscle Leg	muscle
45	chr12:12713000-12716000	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:12713000-12716200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr12:12713000-12716200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:12713000-12716200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:12713200-12714000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr12:12713200-12714200	Active TSS	Fetal Thymus	thymus

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