Variant report

Variant	nsv899029
Chromosome Location	chr12:40478652-40536061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:994)
CpG islands
(count:610)
Chromatin interactive
region (count:49)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:994 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40493144-40494325	K562	blood:	n/a	n/a
2	ARID3A	chr12:40498779-40498912	K562	blood:	n/a	n/a
3	ARID3A	chr12:40493582-40493796	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:40498119-40498288	K562	blood:	n/a	n/a
5	ARID3A	chr12:40501338-40501674	HepG2	liver:	n/a	n/a
6	ATF1	chr12:40493267-40493637	K562	blood:	n/a	n/a
7	ATF2	chr12:40530977-40531485	GM12878	blood:	n/a	n/a
8	ATF2	chr12:40511589-40512134	GM12878	blood:	n/a	n/a
9	ATF2	chr12:40511602-40512071	GM12878	blood:	n/a	n/a
10	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
11	ATF3	chr12:40501298-40501737	A549	lung:	n/a	n/a
12	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr12:40498672-40498821	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr12:40498670-40498870	K562	blood:	n/a	n/a
15	BATF	chr12:40531152-40531342	GM12878	blood:	n/a	n/a
16	BATF	chr12:40511607-40511993	GM12878	blood:	n/a	n/a
17	BATF	chr12:40511643-40512006	GM12878	blood:	n/a	n/a
18	BCL11A	chr12:40511628-40512004	GM12878	blood:	n/a	n/a
19	BCLAF1	chr12:40511651-40511942	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:40511645-40512023	GM12878	blood:	n/a	n/a
21	BCLAF1	chr12:40501287-40501707	GM12878	blood:	n/a	chr12:40501449-40501458
22	BHLHE40	chr12:40493095-40493738	K562	blood:	n/a	chr12:40493388-40493397 chr12:40493382-40493403 chr12:40493387-40493396
23	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
24	BHLHE40	chr12:40499148-40500152	GM12878	blood:	n/a	chr12:40499900-40499909
25	BHLHE40	chr12:40531157-40531393	GM12878	blood:	n/a	n/a
26	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
27	BHLHE40	chr12:40501287-40502380	GM12878	blood:	n/a	chr12:40502192-40502208
28	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
29	BHLHE40	chr12:40499729-40500060	HepG2	liver:	n/a	chr12:40499900-40499909
30	CBX3	chr12:40493097-40493672	K562	blood:	n/a	n/a
31	CBX3	chr12:40492520-40492962	K562	blood:	n/a	n/a
32	CBX3	chr12:40498540-40498991	K562	blood:	n/a	n/a
33	CBX3	chr12:40501280-40501697	K562	blood:	n/a	n/a
34	CCNT2	chr12:40493324-40493632	K562	blood:	n/a	n/a
35	CCNT2	chr12:40498953-40500070	K562	blood:	n/a	n/a
36	CEBPB	chr12:40492056-40492399	K562	blood:	n/a	chr12:40492213-40492224
37	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr12:40488950-40489044	A549	lung:	n/a	chr12:40488970-40488983
39	CEBPB	chr12:40501016-40501656	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr12:40517397-40517597	HepG2	liver:	n/a	n/a
41	CEBPB	chr12:40493259-40493654	K562	blood:	n/a	n/a
42	CEBPB	chr12:40493278-40494231	K562	blood:	n/a	n/a
43	CEBPB	chr12:40492043-40492373	IMR90	lung:	n/a	chr12:40492213-40492224
44	CEBPB	chr12:40517338-40517663	Hela-S3	cervix:	n/a	chr12:40517645-40517657
45	CEBPB	chr12:40490659-40490742	A549	lung:	n/a	n/a
46	CEBPB	chr12:40492039-40492363	HepG2	liver:	n/a	chr12:40492213-40492224
47	CEBPB	chr12:40533224-40533424	A549	lung:	n/a	chr12:40533360-40533371
48	CEBPB	chr12:40535738-40536586	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr12:40533238-40533525	HepG2	liver:	n/a	chr12:40533360-40533371
50	CEBPB	chr12:40492030-40492372	A549	lung:	n/a	chr12:40492213-40492224

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40500619-40500669	Hepatocyte	liver:	n/a
2	chr12:40500619-40500669	GM12891	blood:	n/a
3	chr12:40500016-40500066	AoSMC	blood vessel:	n/a
4	chr12:40499623-40499673	HRE	kidney:	n/a
5	chr12:40503038-40503088	SAEC	small airway:	n/a
6	chr12:40499623-40499673	SAEC	small airway:	n/a
7	chr12:40499811-40499861	U87	brain:	n/a
8	chr12:40500619-40500669	SAEC	small airway:	n/a
9	chr12:40500619-40500669	BJ	skin:	n/a
10	chr12:40499811-40499861	HL-60	blood:	n/a
11	chr12:40500016-40500066	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:40499947-40499997	HEEpiC	esophagus:	n/a
13	chr12:40497575-40497625	BE2_C	brain:	n/a
14	chr12:40499262-40499312	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:40500016-40500066	U87	brain:	n/a
16	chr12:40500139-40500189	GM12892	blood:	n/a
17	chr12:40499262-40499312	CMK	blood:	n/a
18	chr12:40500139-40500189	GM06990	blood:	n/a
19	chr12:40500619-40500669	RPTEC	kidney:	n/a
20	chr12:40499623-40499673	GM12892	blood:	n/a
21	chr12:40499947-40499997	K562	blood:	n/a
22	chr12:40497575-40497625	HRE	kidney:	n/a
23	chr12:40500139-40500189	HEK293	kidney:	embryo
24	chr12:40500016-40500066	SK-N-SH	brain:	n/a
25	chr12:40496213-40496263	GM12878	blood:	n/a
26	chr12:40499947-40499997	GM12892	blood:	n/a
27	chr12:40500139-40500189	SKMC	muscle:	n/a
28	chr12:40499623-40499673	NB4	blood:	n/a
29	chr12:40499623-40499673	T-47D	breast:	n/a
30	chr12:40499623-40499673	NT2-D1	testis:	n/a
31	chr12:40500016-40500066	HL-60	blood:	n/a
32	chr12:40503038-40503088	Hela-S3	cervix:	n/a
33	chr12:40500016-40500066	SKMC	muscle:	n/a
34	chr12:40496213-40496263	MCF-7	breast:	n/a
35	chr12:40499262-40499312	GM12891	blood:	n/a
36	chr12:40496213-40496263	ProgFib	skin:	n/a
37	chr12:40496213-40496263	Caco-2	colon:	n/a
38	chr12:40500139-40500189	T-47D	breast:	n/a
39	chr12:40499811-40499861	CMK	blood:	n/a
40	chr12:40499262-40499312	SK-N-SH	brain:	n/a
41	chr12:40497575-40497625	H1-hESC	embryonic stem cell:	embryo
42	chr12:40500139-40500189	AoSMC	blood vessel:	n/a
43	chr12:40497575-40497625	GM12892	blood:	n/a
44	chr12:40500016-40500066	T-47D	breast:	n/a
45	chr12:40500016-40500066	AG04449	skin:	fetal
46	chr12:40500619-40500669	T-47D	breast:	n/a
47	chr12:40497575-40497625	NB4	blood:	n/a
48	chr12:40500619-40500669	BE2_C	brain:	n/a
49	chr12:40499623-40499673	GM06990	blood:	n/a
50	chr12:40503038-40503088	A549	lung:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40468130..40470395-chr12:40476626..40479537,2	K562	blood:
2	chr12:40459470..40461865-chr12:40485100..40487322,2	MCF-7	breast:
3	chr12:40476970..40478917-chr12:40480066..40482046,2	MCF-7	breast:
4	chr12:40481016..40484666-chr12:40485206..40488003,4	K562	blood:
5	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
6	chr12:40485743..40487373-chr12:40492578..40494956,2	MCF-7	breast:
7	chr12:40480335..40482616-chr12:40490447..40492552,2	MCF-7	breast:
8	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:
9	12:40491106-40496076..12:40703633-40711447	GM12878	blood:
10	chr12:40483377..40487149-chr12:40498015..40500549,4	K562	blood:
11	chr12:40425798..40426494-chr12:40501097..40501912,2	MCF-7	breast:
12	chr12:40485743..40487373-chr12:40492578..40494956,2	MCF-7	breast:
13	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
14	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
15	chr12:40442497..40444511-chr12:40489618..40491623,2	K562	blood:
16	chr12:40490927..40494840-chr12:40498273..40501299,7	MCF-7	breast:
17	chr12:40478482..40480663-chr12:40481421..40484352,2	MCF-7	breast:
18	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
19	chr12:40481786..40484578-chr12:40492831..40495668,2	MCF-7	breast:
20	chr12:40404668..40405271-chr12:40503732..40504617,2	MCF-7	breast:
21	chr12:40526853..40529105-chr12:40530805..40532717,2	MCF-7	breast:
22	chr12:40526853..40529105-chr12:40530805..40532717,2	MCF-7	breast:
23	chr12:40480335..40482616-chr12:40490447..40492552,2	MCF-7	breast:
24	chr12:40481016..40484666-chr12:40485206..40488003,4	K562	blood:
25	chr12:40490476..40493395-chr12:40497696..40500729,3	MCF-7	breast:
26	chr12:40476970..40478917-chr12:40480066..40482046,2	MCF-7	breast:
27	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
28	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
29	chr12:40468895..40470933-chr12:40476626..40479292,2	K562	blood:
30	chr12:40478482..40480663-chr12:40481421..40484352,2	MCF-7	breast:
31	chr12:40484990..40487793-chr12:40489552..40494427,5	K562	blood:
32	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
33	chr12:40480723..40487168-chr12:40489659..40495663,7	K562	blood:
34	chr12:40419862..40422582-chr12:40493466..40495715,2	K562	blood:
35	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
36	chr12:40495644..40497821-chr12:40498343..40500336,2	MCF-7	breast:
37	12:40517820-40521124..12:40703633-40711447	GM12878	blood:
38	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
39	12:40491106-40496076..12:40793507-40812339	GM12878	blood:
40	chr12:40484990..40487793-chr12:40489552..40494427,5	K562	blood:
41	chr12:40487964..40490354-chr12:40491497..40493433,2	K562	blood:
42	chr12:40481786..40484578-chr12:40492831..40495668,2	MCF-7	breast:
43	chr12:40495673..40496364-chr9:7098775..7099598,2	K562	blood:
44	12:40525880-40532672..12:40703633-40711447	GM12878	blood:
45	chr12:40427544..40429854-chr12:40484526..40486904,2	MCF-7	breast:
46	chr12:40487964..40490354-chr12:40491497..40493433,2	K562	blood:
47	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:
48	chr12:40480723..40487168-chr12:40489659..40495663,7	K562	blood:
49	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC2A13-1	chr12:40534728-40536678	ENSG00000260943.1
2	lnc-SLC2A13-1	chr12:40534259-40536436	XLOC_010052

No data

Variant related genes	Relation type
SLC2A13	TF binding region
SLC2A13	CpG island
ENSG00000139116	chromatin interactions
ENSG00000205592	chromatin interactions
ENSG00000188906	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000151229	chromatin interactions
ENSG00000252974	chromatin interactions
BRMS1L	miRNA target sites

Extended variants
information (count: 1700 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2708453	chr12:40478652-40478653	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182492463	chr12:40478670-40478671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566530114	chr12:40478675-40478676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534067432	chr12:40478694-40478695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558922353	chr12:40478697-40478698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140060783	chr12:40478717-40478718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527383819	chr12:40478749-40478750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2638276	chr12:40478751-40478752	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12821262	chr12:40478755-40478756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574879261	chr12:40478763-40478764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542005742	chr12:40478779-40478780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2624246	chr12:40478783-40478784	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572140759	chr12:40478791-40478792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12300008	chr12:40478842-40478843	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564460281	chr12:40478854-40478855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150300238	chr12:40478883-40478884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137959500	chr12:40478897-40478898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562394423	chr12:40479008-40479009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529790392	chr12:40479055-40479056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7960662	chr12:40479067-40479068	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560171074	chr12:40479086-40479087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527307993	chr12:40479110-40479111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187148040	chr12:40479132-40479133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531856639	chr12:40479135-40479136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191189128	chr12:40479163-40479164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149058795	chr12:40479176-40479177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143101378	chr12:40479207-40479208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138812972	chr12:40479250-40479251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12823777	chr12:40479258-40479259	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535927633	chr12:40479356-40479357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553875924	chr12:40479411-40479412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572079554	chr12:40479422-40479423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539462449	chr12:40479425-40479426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142820139	chr12:40479511-40479512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2128272	chr12:40479551-40479552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576674752	chr12:40479564-40479565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2128271	chr12:40479594-40479595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543805996	chr12:40479603-40479604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537550983	chr12:40479622-40479623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74338306	chr12:40479630-40479631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182270031	chr12:40479652-40479653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187598801	chr12:40479658-40479659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75213246	chr12:40479694-40479695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77060912	chr12:40479695-40479696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527243485	chr12:40479707-40479708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545010588	chr12:40479708-40479709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552205625	chr12:40479713-40479714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147422081	chr12:40479718-40479719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531624613	chr12:40479719-40479720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549841872	chr12:40479735-40479736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
2	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:40474400-40497000	Weak transcription	Ovary	ovary
6	chr12:40474800-40480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:40475400-40483000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:40475600-40496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:40475800-40479400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:40475800-40480000	Weak transcription	Right Ventricle	heart
12	chr12:40476000-40479400	Weak transcription	Liver	Liver
13	chr12:40476000-40480200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:40476200-40485400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40476400-40486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:40476400-40492400	Weak transcription	K562	blood
17	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:40476600-40480400	Weak transcription	Aorta	Aorta
19	chr12:40476600-40484600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:40476600-40492600	Weak transcription	Lung	lung
21	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
22	chr12:40476800-40479000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:40476800-40480400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:40476800-40480600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:40476800-40481400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:40477000-40480600	Weak transcription	HepG2	liver
28	chr12:40477000-40492000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:40477000-40497000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:40477200-40495200	Weak transcription	Hela-S3	cervix
31	chr12:40477400-40481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:40477400-40496800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:40478600-40492600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:40479000-40493400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:40479200-40493200	Weak transcription	Fetal Heart	heart
36	chr12:40479400-40480600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:40480200-40493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:40480400-40480600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:40480400-40480600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:40480400-40480600	Enhancers	Fetal Kidney	kidney
41	chr12:40480600-40481000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr12:40480600-40481200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:40480600-40485800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:40480600-40496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:40481000-40482000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:40481200-40492800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:40481400-40482400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:40482000-40482400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr12:40482000-40497800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:40482400-40483800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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