Variant report

Variant	nsv1048648
Chromosome Location	chr12:21007732-21410089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1389)
CpG islands
(count:306)
Chromatin interactive
region (count:30)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1389 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:21387015-21387268	K562	blood:	n/a	n/a
2	ATF1	chr12:21392742-21392928	K562	blood:	n/a	n/a
3	BACH1	chr12:21380331-21380521	K562	blood:	n/a	n/a
4	BACH1	chr12:21322799-21322999	K562	blood:	n/a	n/a
5	BACH1	chr12:21350777-21350898	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr12:21090344-21090547	GM12878	blood:	n/a	n/a
7	BATF	chr12:21021928-21022137	GM12878	blood:	n/a	chr12:21022019-21022030
8	BHLHE40	chr12:21017099-21017177	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:21138511-21138625	GM12878	blood:	n/a	n/a
10	BRCA1	chr12:21103222-21103500	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr12:21322801-21323167	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr12:21308670-21308879	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:21243036-21243304	IMR90	lung:	n/a	chr12:21243166-21243177
14	CEBPB	chr12:21325090-21325330	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr12:21246783-21246933	HepG2	liver:	n/a	chr12:21246828-21246839
16	CEBPB	chr12:21056070-21056238	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:21193579-21193868	A549	lung:	n/a	chr12:21193754-21193765
18	CEBPB	chr12:21215636-21215960	A549	lung:	n/a	n/a
19	CEBPB	chr12:21036268-21036667	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
20	CEBPB	chr12:21282343-21282678	HepG2	liver:	n/a	chr12:21282598-21282609 chr12:21282528-21282539
21	CEBPB	chr12:21038089-21038427	A549	lung:	n/a	n/a
22	CEBPB	chr12:21260029-21260209	A549	lung:	n/a	chr12:21260128-21260137 chr12:21260126-21260137 chr12:21260126-21260139
23	CEBPB	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
24	CEBPB	chr12:21036282-21036646	Hela-S3	cervix:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
25	CEBPB	chr12:21356602-21356832	H1-hESC	embryonic stem cell:	n/a	chr12:21356695-21356706
26	CEBPB	chr12:21409453-21409717	HepG2	liver:	n/a	chr12:21409600-21409611
27	CEBPB	chr12:21260031-21260260	IMR90	lung:	n/a	chr12:21260128-21260137 chr12:21260126-21260137 chr12:21260126-21260139
28	CEBPB	chr12:21036286-21036659	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
29	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
30	CEBPB	chr12:21356582-21356854	A549	lung:	n/a	chr12:21356695-21356706
31	CEBPB	chr12:21233354-21233510	A549	lung:	n/a	n/a
32	CEBPB	chr12:21234037-21234356	A549	lung:	n/a	chr12:21234179-21234190
33	CEBPB	chr12:21193722-21193901	H1-hESC	embryonic stem cell:	n/a	chr12:21193754-21193765
34	CEBPB	chr12:21243014-21243312	A549	lung:	n/a	chr12:21243166-21243177
35	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
36	CEBPB	chr12:21358479-21358755	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:21036323-21036549	HepG2	liver:	n/a	chr12:21036463-21036474
38	CEBPB	chr12:21260027-21260258	HepG2	liver:	n/a	chr12:21260128-21260137 chr12:21260126-21260137 chr12:21260126-21260139
39	CEBPB	chr12:21065012-21065124	HepG2	liver:	n/a	chr12:21065034-21065045
40	CEBPB	chr12:21356579-21356809	HepG2	liver:	n/a	chr12:21356695-21356706
41	CEBPB	chr12:21133477-21133530	HepG2	liver:	n/a	n/a
42	CEBPB	chr12:21114301-21114316	A549	lung:	n/a	n/a
43	CEBPB	chr12:21036155-21036832	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
44	CEBPB	chr12:21234048-21234229	H1-hESC	embryonic stem cell:	n/a	chr12:21234179-21234190
45	CEBPB	chr12:21409557-21409626	K562	blood:	n/a	chr12:21409600-21409611
46	CEBPB	chr12:21175943-21176096	H1-hESC	embryonic stem cell:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
47	CEBPB	chr12:21193668-21193868	Hela-S3	cervix:	n/a	chr12:21193754-21193765
48	CEBPB	chr12:21193602-21193866	HepG2	liver:	n/a	chr12:21193754-21193765
49	CEBPB	chr12:21394753-21395095	HepG2	liver:	n/a	chr12:21394924-21394935
50	CEBPB	chr12:21358486-21358919	A549	lung:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21014317-21014367	CMK	blood:	n/a
2	chr12:21014317-21014367	CMK	blood:	n/a
3	chr12:21014317-21014367	Caco-2	colon:	n/a
4	chr12:21324585-21324635	NHDF-neo	bronchial:	n/a
5	chr12:21014317-21014367	HL-60	blood:	n/a
6	chr12:21324585-21324635	HL-60	blood:	n/a
7	chr12:21283725-21283775	SKMC	muscle:	n/a
8	chr12:21015340-21015390	AoSMC	blood vessel:	n/a
9	chr12:21287375-21287425	NB4	blood:	n/a
10	chr12:21324585-21324635	PANC-1	pancreas:	n/a
11	chr12:21015340-21015390	AG09309	skin:	n/a
12	chr12:21287375-21287425	AG04450	lung:	fetal
13	chr12:21015340-21015390	HMEC	breast:	n/a
14	chr12:21283725-21283775	T-47D	breast:	n/a
15	chr12:21287375-21287425	RPTEC	kidney:	n/a
16	chr12:21287375-21287425	SK-N-SH_RA	brain:	n/a
17	chr12:21015340-21015390	H1-hESC	embryonic stem cell:	embryo
18	chr12:21324585-21324635	U87	brain:	n/a
19	chr12:21283725-21283775	BE2_C	brain:	n/a
20	chr12:21015340-21015390	SK-N-MC	brain:	n/a
21	chr12:21283725-21283775	SK-N-SH_RA	brain:	n/a
22	chr12:21287375-21287425	NT2-D1	testis:	n/a
23	chr12:21014317-21014367	SK-N-SH	brain:	n/a
24	chr12:21014317-21014367	SK-N-MC	brain:	n/a
25	chr12:21015340-21015390	NHDF-neo	bronchial:	n/a
26	chr12:21283725-21283775	BJ	skin:	n/a
27	chr12:21014317-21014367	ProgFib	skin:	n/a
28	chr12:21287375-21287425	BJ	skin:	n/a
29	chr12:21287375-21287425	GM12878	blood:	n/a
30	chr12:21014317-21014367	AoSMC	blood vessel:	n/a
31	chr12:21283725-21283775	ProgFib	skin:	n/a
32	chr12:21014317-21014367	HRPEpiC	eye:	n/a
33	chr12:21283725-21283775	HCM	heart:	n/a
34	chr12:21283725-21283775	AG04450	lung:	fetal
35	chr12:21283725-21283775	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:21015340-21015390	HAEpiC	amniotic membrane:	n/a
37	chr12:21015340-21015390	NHBE	bronchial:	n/a
38	chr12:21283725-21283775	Hepatocyte	liver:	n/a
39	chr12:21287375-21287425	GM06990	blood:	n/a
40	chr12:21324585-21324635	AG09319	gingival:	n/a
41	chr12:21324585-21324635	GM12892	blood:	n/a
42	chr12:21283725-21283775	Hela-S3	cervix:	n/a
43	chr12:21324585-21324635	HAEpiC	amniotic membrane:	n/a
44	chr12:21283725-21283775	A549	lung:	n/a
45	chr12:21283725-21283775	H1-hESC	embryonic stem cell:	embryo
46	chr12:21014317-21014367	PFSK-1	brain:	n/a
47	chr12:21324585-21324635	HIPEpiC	eye:	n/a
48	chr12:21324585-21324635	NT2-D1	testis:	n/a
49	chr12:21324585-21324635	HRCEpiC	kidney:	n/a
50	chr12:21324585-21324635	PrEC	prostate:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
2	chr12:21220478..21221206-chr12:21228660..21229307,2	MCF-7	breast:
3	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
4	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
5	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
6	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
7	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
8	chr12:21268556..21269333-chr7:84915114..84915941,2	MCF-7	breast:
9	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:
10	chr12:21372629..21374270-chr12:21375812..21377730,2	K562	blood:
11	chr12:21373190..21374871-chr12:21381396..21383038,2	K562	blood:
12	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
13	chr12:21368652..21370975-chr12:21374890..21377722,2	K562	blood:
14	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
15	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
16	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
17	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
18	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
19	chr12:21337800..21339752-chr12:21340612..21342590,2	K562	blood:
20	chr12:21193958..21195458-chr17:59872939..59874521,2	MCF-7	breast:
21	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
22	chr12:21254641..21256921-chr12:21258871..21260640,2	K562	blood:
23	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
24	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
25	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
26	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
27	chr12:21254641..21256921-chr12:21258871..21260640,2	K562	blood:
28	chr12:21220478..21221206-chr12:21228660..21229307,2	MCF-7	breast:
29	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
30	chr12:21367379..21369612-chr12:21376922..21378821,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1B1-1	chr12:21228194-21228718	NONHSAT027240
2	lnc-SLCO1B1-1	chr12:21220285-21220317	NONHSAT027240
3	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

No data

Variant related genes	Relation type
SLCO1B3	TF binding region
ENSG00000257062	TF binding region
SLCO1B1	TF binding region
SLCO1B7	TF binding region
SLCO1B3	CpG island
ENSG00000257062	CpG island
SLCO1B1	CpG island
SLCO1B7	CpG island

Extended variants
information (count: 12694 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:12694 , 50 per page) page: 1 2 3 4 5 6 7 ... 254

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539341926	chr12:21007732-21007733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549614096	chr12:21007746-21007747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145435952	chr12:21007775-21007776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148873611	chr12:21007828-21007829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555135655	chr12:21007833-21007834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142620717	chr12:21007868-21007869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373319183	chr12:21007919-21007920	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534630821	chr12:21007974-21007975	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144143469	chr12:21007976-21007977	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79042365	chr12:21007985-21007986	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11045565	chr12:21008004-21008005	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs578259935	chr12:21008018-21008019	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs57325543	chr12:21008031-21008032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117554616	chr12:21008039-21008040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374761449	chr12:21008042-21008043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190960788	chr12:21008058-21008059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543120401	chr12:21008064-21008065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151295214	chr12:21008067-21008068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558592800	chr12:21008080-21008081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374641951	chr12:21008086-21008087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368817817	chr12:21008088-21008089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200473248	chr12:21008090-21008091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528572408	chr12:21008141-21008142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7302920	chr12:21008143-21008144	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180681772	chr12:21008192-21008193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533061572	chr12:21008207-21008208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575641112	chr12:21008220-21008221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187214472	chr12:21008300-21008301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4149109	chr12:21008356-21008357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35308450	chr12:21008396-21008397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529051077	chr12:21008409-21008410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560925909	chr12:21008410-21008411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4149110	chr12:21008432-21008433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7303743	chr12:21008498-21008499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371185830	chr12:21008512-21008513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373603904	chr12:21008556-21008557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138010878	chr12:21008561-21008562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567202916	chr12:21008592-21008593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35056493	chr12:21008593-21008594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35228554	chr12:21008730-21008731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77638597	chr12:21008846-21008847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143555681	chr12:21008888-21008889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74067318	chr12:21008908-21008909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201000252	chr12:21008970-21008971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543127592	chr12:21008990-21008991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557334065	chr12:21009003-21009004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190885888	chr12:21009012-21009013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183098103	chr12:21009045-21009046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10841672	chr12:21009049-21009050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145926334	chr12:21009069-21009070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21006200-21011000	Weak transcription	Liver	Liver
2	chr12:21006600-21018000	Weak transcription	A549	lung
3	chr12:21007200-21007800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:21007400-21007800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:21007400-21007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:21007600-21008000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:21011000-21014600	Strong transcription	Liver	Liver
9	chr12:21014600-21015400	Weak transcription	Liver	Liver
10	chr12:21015400-21018400	Strong transcription	Liver	Liver
11	chr12:21017800-21019200	Enhancers	HUVEC	blood vessel
12	chr12:21018000-21018200	Strong transcription	A549	lung
13	chr12:21018200-21018800	Weak transcription	A549	lung
14	chr12:21018400-21020800	Weak transcription	Liver	Liver
15	chr12:21018800-21020600	Strong transcription	A549	lung
16	chr12:21019800-21020000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:21020000-21020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:21020000-21020600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:21020600-21021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:21020600-21027400	Weak transcription	A549	lung
21	chr12:21020800-21021200	Strong transcription	Liver	Liver
22	chr12:21020800-21021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:21021200-21024600	Weak transcription	Liver	Liver
24	chr12:21021600-21022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:21024600-21026200	Strong transcription	Liver	Liver
26	chr12:21026200-21027800	Weak transcription	Liver	Liver
27	chr12:21027400-21028400	Strong transcription	A549	lung
28	chr12:21027800-21029600	Strong transcription	Liver	Liver
29	chr12:21028400-21035800	Weak transcription	A549	lung
30	chr12:21029600-21032400	Weak transcription	Liver	Liver
31	chr12:21032400-21035400	Strong transcription	Liver	Liver
32	chr12:21034000-21034200	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:21034400-21035000	Enhancers	Stomach Mucosa	stomach
34	chr12:21034400-21035600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:21035000-21035400	Weak transcription	Stomach Mucosa	stomach
36	chr12:21035400-21036000	Enhancers	Stomach Mucosa	stomach
37	chr12:21035400-21039000	Weak transcription	Liver	Liver
38	chr12:21035600-21036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:21035600-21036600	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:21035600-21037800	Enhancers	Colon Smooth Muscle	Colon
41	chr12:21035800-21036600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:21035800-21037000	Enhancers	Adipose Nuclei	Adipose
43	chr12:21035800-21037600	Enhancers	HUVEC	blood vessel
44	chr12:21035800-21038200	Enhancers	A549	lung
45	chr12:21038200-21038400	Flanking Active TSS	A549	lung
46	chr12:21038400-21038800	Enhancers	A549	lung
47	chr12:21038800-21040600	Weak transcription	A549	lung
48	chr12:21039000-21040000	Strong transcription	Liver	Liver
49	chr12:21040000-21046600	Weak transcription	Liver	Liver
50	chr12:21044600-21054200	Weak transcription	A549	lung

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