Variant report

Variant	esv1838004
Chromosome Location	chr12:40492814-40499934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:439)
CpG islands
(count:305)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	chr12:40493582-40493796	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:40498779-40498912	K562	blood:	n/a	n/a
4	ARID3A	chr12:40498119-40498288	K562	blood:	n/a	n/a
5	ATF1	chr12:40493267-40493637	K562	blood:	n/a	n/a
6	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
7	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:40498670-40498870	K562	blood:	n/a	n/a
9	BACH1	chr12:40498672-40498821	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
11	BHLHE40	chr12:40499729-40500060	HepG2	liver:	n/a	chr12:40499900-40499909
12	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
13	BHLHE40	chr12:40493095-40493738	K562	blood:	n/a	chr12:40493388-40493397 chr12:40493382-40493403 chr12:40493387-40493396
14	BHLHE40	chr12:40499148-40500152	GM12878	blood:	n/a	chr12:40499900-40499909
15	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
16	CBX3	chr12:40498540-40498991	K562	blood:	n/a	n/a
17	CBX3	chr12:40493097-40493672	K562	blood:	n/a	n/a
18	CBX3	chr12:40492520-40492962	K562	blood:	n/a	n/a
19	CCNT2	chr12:40498953-40500070	K562	blood:	n/a	n/a
20	CCNT2	chr12:40493324-40493632	K562	blood:	n/a	n/a
21	CEBPB	chr12:40493278-40494231	K562	blood:	n/a	n/a
22	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:40493259-40493654	K562	blood:	n/a	n/a
24	CEBPD	chr12:40493173-40493667	K562	blood:	n/a	n/a
25	CEBPD	chr12:40499709-40499945	HepG2	liver:	n/a	n/a
26	CEBPD	chr12:40493145-40493649	K562	blood:	n/a	n/a
27	CHD1	chr12:40499382-40499523	GM12878	blood:	n/a	n/a
28	CHD1	chr12:40499504-40499654	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr12:40498606-40499137	GM12878	blood:	n/a	chr12:40498850-40498860
30	CHD2	chr12:40498723-40498889	K562	blood:	n/a	chr12:40498850-40498860
31	CHD2	chr12:40499657-40499819	HepG2	liver:	n/a	n/a
32	CHD2	chr12:40499445-40499943	GM12878	blood:	n/a	chr12:40499881-40499891 chr12:40499847-40499857
33	CHD2	chr12:40499108-40499848	K562	blood:	n/a	n/a
34	CHD2	chr12:40498701-40500266	Hela-S3	cervix:	n/a	chr12:40498850-40498860 chr12:40499881-40499891 chr12:40499847-40499857
35	CREB1	chr12:40499618-40500115	A549	lung:	n/a	n/a
36	CREB1	chr12:40499023-40499614	A549	lung:	n/a	n/a
37	CREB1	chr12:40499005-40500250	HepG2	liver:	n/a	n/a
38	CTCF	chr12:40499340-40499490	GM12874	blood:	n/a	n/a
39	CTCF	chr12:40499120-40499270	HCFaa	heart:	n/a	n/a
40	CTCF	chr12:40499560-40499710	AG04450	lung:	n/a	n/a
41	CTCF	chr12:40499400-40499550	SAEC	small airway:	n/a	n/a
42	CTCF	chr12:40499740-40499890	AG04449	skin:	n/a	n/a
43	CTCF	chr12:40497600-40497870	HPF	lung:	n/a	n/a
44	CTCF	chr12:40499680-40499830	GM12869	blood:	n/a	n/a
45	CTCF	chr12:40498900-40499050	AG04449	skin:	n/a	n/a
46	CTCF	chr12:40499380-40499530	GM12865	blood:	n/a	n/a
47	CTCF	chr12:40499340-40499490	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:40499380-40499530	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr12:40499040-40499190	SAEC	small airway:	n/a	n/a
50	CTCF	chr12:40499483-40499484	LNCaP	prostate:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40499811-40499861	Hela-S3	cervix:	n/a
2	chr12:40499262-40499312	AG04449	skin:	fetal
3	chr12:40496213-40496263	U87	brain:	n/a
4	chr12:40499811-40499861	HAEpiC	amniotic membrane:	n/a
5	chr12:40497575-40497625	ECC-1	luminal epithelium:	n/a
6	chr12:40497575-40497625	Caco-2	colon:	n/a
7	chr12:40496213-40496263	BJ	skin:	n/a
8	chr12:40499811-40499861	AG04449	skin:	fetal
9	chr12:40499811-40499861	SK-N-SH	brain:	n/a
10	chr12:40497575-40497625	SAEC	small airway:	n/a
11	chr12:40499623-40499673	HRPEpiC	eye:	n/a
12	chr12:40499262-40499312	AG09309	skin:	n/a
13	chr12:40499623-40499673	NHDF-neo	bronchial:	n/a
14	chr12:40499623-40499673	SK-N-SH	brain:	n/a
15	chr12:40499623-40499673	HCF	heart:	n/a
16	chr12:40499811-40499861	HIPEpiC	eye:	n/a
17	chr12:40499623-40499673	ECC-1	luminal epithelium:	n/a
18	chr12:40499262-40499312	T-47D	breast:	n/a
19	chr12:40497575-40497625	NHBE	bronchial:	n/a
20	chr12:40496213-40496263	HUVEC	blood vessel:	n/a
21	chr12:40499811-40499861	PFSK-1	brain:	n/a
22	chr12:40499262-40499312	AG04450	lung:	fetal
23	chr12:40496213-40496263	GM19239	blood:	n/a
24	chr12:40497575-40497625	T-47D	breast:	n/a
25	chr12:40499262-40499312	HCM	heart:	n/a
26	chr12:40496213-40496263	HCM	heart:	n/a
27	chr12:40499623-40499673	AoSMC	blood vessel:	n/a
28	chr12:40496213-40496263	AG09309	skin:	n/a
29	chr12:40497575-40497625	HRE	kidney:	n/a
30	chr12:40499811-40499861	NHBE	bronchial:	n/a
31	chr12:40496213-40496263	LNCaP	prostate:	n/a
32	chr12:40499262-40499312	Hela-S3	cervix:	n/a
33	chr12:40499623-40499673	HMEC	breast:	n/a
34	chr12:40499811-40499861	GM06990	blood:	n/a
35	chr12:40496213-40496263	HAEpiC	amniotic membrane:	n/a
36	chr12:40499623-40499673	U87	brain:	n/a
37	chr12:40499623-40499673	NHBE	bronchial:	n/a
38	chr12:40499811-40499861	MCF-7	breast:	n/a
39	chr12:40499623-40499673	GM12892	blood:	n/a
40	chr12:40499262-40499312	HepG2	liver:	n/a
41	chr12:40499262-40499312	MCF10A-Er-Src	breast:	n/a
42	chr12:40499623-40499673	HUVEC	blood vessel:	n/a
43	chr12:40499262-40499312	HAEpiC	amniotic membrane:	n/a
44	chr12:40497575-40497625	A549	lung:	n/a
45	chr12:40499623-40499673	LNCaP	prostate:	n/a
46	chr12:40496213-40496263	SK-N-MC	brain:	n/a
47	chr12:40496213-40496263	SK-N-SH_RA	brain:	n/a
48	chr12:40499811-40499861	AG09309	skin:	n/a
49	chr12:40499811-40499861	SAEC	small airway:	n/a
50	chr12:40496213-40496263	ovcar-3	ovarian:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
2	chr12:40490927..40494840-chr12:40498273..40501299,7	MCF-7	breast:
3	chr12:40485743..40487373-chr12:40492578..40494956,2	MCF-7	breast:
4	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
5	12:40491106-40496076..12:40703633-40711447	GM12878	blood:
6	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:
7	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
8	chr12:40495644..40497821-chr12:40498343..40500336,2	MCF-7	breast:
9	chr12:40480723..40487168-chr12:40489659..40495663,7	K562	blood:
10	chr12:40481786..40484578-chr12:40492831..40495668,2	MCF-7	breast:
11	12:40491106-40496076..12:40793507-40812339	GM12878	blood:
12	chr12:40487964..40490354-chr12:40491497..40493433,2	K562	blood:
13	chr12:40419862..40422582-chr12:40493466..40495715,2	K562	blood:
14	chr12:40490476..40493395-chr12:40497696..40500729,3	MCF-7	breast:
15	chr12:40495673..40496364-chr9:7098775..7099598,2	K562	blood:
16	chr12:40484990..40487793-chr12:40489552..40494427,5	K562	blood:

No data

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

Extended variants
information (count: 291 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11564277	chr12:40492814-40492815	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375876337	chr12:40492851-40492852	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11564123	chr12:40492909-40492910	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540197794	chr12:40492930-40492931	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546567466	chr12:40492932-40492933	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs189656689	chr12:40492996-40492997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs150861851	chr12:40492999-40493000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538904213	chr12:40493053-40493054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs550915039	chr12:40493117-40493118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs367594461	chr12:40493137-40493138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs7302006	chr12:40493168-40493169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536459884	chr12:40493190-40493191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141533568	chr12:40493191-40493192	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573281287	chr12:40493197-40493198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs180721694	chr12:40493214-40493215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2708448	chr12:40493218-40493219	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577192273	chr12:40493219-40493220	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs150895619	chr12:40493223-40493224	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs562854275	chr12:40493344-40493345	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs115051802	chr12:40493345-40493346	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs542286736	chr12:40493392-40493393	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs139412041	chr12:40493393-40493394	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs17458473	chr12:40493415-40493416	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2896905	chr12:40493416-40493417	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs17442476	chr12:40493428-40493429	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373207824	chr12:40493434-40493435	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1482286	chr12:40493591-40493592	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564868548	chr12:40493599-40493600	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs545357671	chr12:40493612-40493613	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs563858418	chr12:40493614-40493615	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs550853640	chr12:40493645-40493646	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs569176645	chr12:40493674-40493675	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536593435	chr12:40493675-40493676	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs17518476	chr12:40493682-40493683	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs28365177	chr12:40493703-40493704	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566581983	chr12:40493715-40493716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs185970350	chr12:40493798-40493799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs190033630	chr12:40493818-40493819	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577130514	chr12:40493825-40493826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs528336498	chr12:40493899-40493900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537854649	chr12:40493965-40493966	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs17442490	chr12:40493993-40493994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574783012	chr12:40494053-40494054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542151195	chr12:40494060-40494061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs183341799	chr12:40494072-40494073	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs530773036	chr12:40494084-40494085	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs572575078	chr12:40494092-40494093	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs551982923	chr12:40494093-40494094	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs10784369	chr12:40494129-40494130	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs370117621	chr12:40494188-40494189	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:40474400-40497000	Weak transcription	Ovary	ovary
5	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:40475600-40496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
9	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:40477000-40497000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:40477200-40495200	Weak transcription	Hela-S3	cervix
12	chr12:40477400-40496800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:40479000-40493400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:40479200-40493200	Weak transcription	Fetal Heart	heart
15	chr12:40480200-40493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:40480600-40496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:40482000-40497800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:40482400-40493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:40485600-40496800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:40487000-40497400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:40488200-40498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:40491000-40497000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:40492000-40494600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:40492000-40495400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:40492200-40493600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:40492400-40493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:40492400-40493000	Enhancers	K562	blood
28	chr12:40492400-40498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:40492600-40493000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:40492600-40494000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:40492600-40494400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr12:40492600-40494600	Enhancers	Fetal Intestine Large	intestine
33	chr12:40492600-40494600	Enhancers	Stomach Mucosa	stomach
34	chr12:40492800-40493200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:40492800-40494200	Enhancers	Brain Hippocampus Middle	brain
36	chr12:40492800-40494200	Enhancers	Fetal Intestine Small	intestine
37	chr12:40492800-40494400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:40492800-40496800	Weak transcription	Pancreas	Pancrea
39	chr12:40492800-40497600	Weak transcription	Left Ventricle	heart
40	chr12:40492800-40498000	Weak transcription	Gastric	stomach
41	chr12:40492800-40498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:40492800-40498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:40492800-40498600	Weak transcription	Lung	lung
44	chr12:40493000-40493200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:40493000-40494000	Enhancers	HepG2	liver
46	chr12:40493000-40494200	Flanking Active TSS	K562	blood
47	chr12:40493000-40496600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:40493200-40493600	Enhancers	Colon Smooth Muscle	Colon
49	chr12:40493200-40493600	Enhancers	Fetal Kidney	kidney
50	chr12:40493200-40493800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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